Loading…
Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma
Two male cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form) are described. One presented with a poorly differentiated lymphocytic lymphoma of the skin in areas of poikiloderma atrophicans vasculare which had been present for 10 years.
Saved in:
Published in: | Journal of medical genetics 1982-06, Vol.19 (3), p.210-213 |
---|---|
Main Authors: | , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
cited_by | cdi_FETCH-LOGICAL-b4530-1b4bde2b4c6c66ad896eb1f3818f481423e1adc0486f74ea9c45ca2cb850b74e3 |
---|---|
cites | cdi_FETCH-LOGICAL-b4530-1b4bde2b4c6c66ad896eb1f3818f481423e1adc0486f74ea9c45ca2cb850b74e3 |
container_end_page | 213 |
container_issue | 3 |
container_start_page | 210 |
container_title | Journal of medical genetics |
container_volume | 19 |
creator | Branford, William A Beveridge, George W Wynne-Davies, Ruth |
description | Two male cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form) are described. One presented with a poorly differentiated lymphocytic lymphoma of the skin in areas of poikiloderma atrophicans vasculare which had been present for 10 years. |
doi_str_mv | 10.1136/jmg.19.3.210 |
format | article |
fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1048867</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>74174901</sourcerecordid><originalsourceid>FETCH-LOGICAL-b4530-1b4bde2b4c6c66ad896eb1f3818f481423e1adc0486f74ea9c45ca2cb850b74e3</originalsourceid><addsrcrecordid>eNqFks2O0zAURi0EGkphxxbJEhIM0qTYieM4GyRU8SdGsCkMO8txblq3ThzstEMeibfEpVUHEIiVLX9H5_raF6GHlMwozfjzdbuc0XKWzVJKbqEJZVwkPGXsNpoQkqZJmpfZXXQvhDUhNCsoP0NnXJCyZGyCvi-uHW6MDwPWbhtMF_C1GVY49K6rR-ugN_1qDKAsrsfQWxWMwoPytcLnX7A13QZq7EFDCGYHuHG-fXaBXQdY2eAOrt6ZjbGuBt8qrAbv-pXRKlbaqaC3VnnAvXdLv3d0Szw4bMe2Xzk9DkYf9626j-400QkPjusUfXr9ajF_m1x-fPNu_vIyqViekYRWrKohrZjmmnNVi5JDRZtMUNEwQVmaAVW1JkzwpmCgSs1yrVJdiZxU8SCbohcHb7-tWqg1dINXVvbetMqP0ikjf086s5JLt5M0OgUvouDJUeDd1y2EQbYmaLBWdRCfWBaMFqyMXzFFj_8A127ru9iczAgXOSPkp-6fFC0KknNSpiJSFwdKexeCh-Z0YUrkfkxkHBNJS5nJOCYRf_Rrkyf4OBcxTw65CQN8O8XKb2S8UpHLD5_ncr6YX5Xvrwq5L__0wFft-n-Vz2_Im07-hv4AS_3mjg</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1770560928</pqid></control><display><type>article</type><title>Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma</title><source>PubMed Central (Open access)</source><creator>Branford, William A ; Beveridge, George W ; Wynne-Davies, Ruth</creator><creatorcontrib>Branford, William A ; Beveridge, George W ; Wynne-Davies, Ruth</creatorcontrib><description>Two male cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form) are described. One presented with a poorly differentiated lymphocytic lymphoma of the skin in areas of poikiloderma atrophicans vasculare which had been present for 10 years.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.19.3.210</identifier><identifier>PMID: 6809944</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Adult ; Dysplasia ; Female ; Genes, Recessive ; Genetic Linkage ; Humans ; Lymphoma ; Lymphoma, Non-Hodgkin - genetics ; Male ; Mucopolysaccharidosis IV - genetics ; Pedigree ; Skin Diseases - genetics ; Skin Neoplasms - genetics ; X Chromosome</subject><ispartof>Journal of medical genetics, 1982-06, Vol.19 (3), p.210-213</ispartof><rights>Copyright BMJ Publishing Group LTD Jun 1982</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b4530-1b4bde2b4c6c66ad896eb1f3818f481423e1adc0486f74ea9c45ca2cb850b74e3</citedby><cites>FETCH-LOGICAL-b4530-1b4bde2b4c6c66ad896eb1f3818f481423e1adc0486f74ea9c45ca2cb850b74e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1048867/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1048867/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6809944$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Branford, William A</creatorcontrib><creatorcontrib>Beveridge, George W</creatorcontrib><creatorcontrib>Wynne-Davies, Ruth</creatorcontrib><title>Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><addtitle>J Med Genet</addtitle><description>Two male cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form) are described. One presented with a poorly differentiated lymphocytic lymphoma of the skin in areas of poikiloderma atrophicans vasculare which had been present for 10 years.</description><subject>Adult</subject><subject>Dysplasia</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>Lymphoma</subject><subject>Lymphoma, Non-Hodgkin - genetics</subject><subject>Male</subject><subject>Mucopolysaccharidosis IV - genetics</subject><subject>Pedigree</subject><subject>Skin Diseases - genetics</subject><subject>Skin Neoplasms - genetics</subject><subject>X Chromosome</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1982</creationdate><recordtype>article</recordtype><recordid>eNqFks2O0zAURi0EGkphxxbJEhIM0qTYieM4GyRU8SdGsCkMO8txblq3ThzstEMeibfEpVUHEIiVLX9H5_raF6GHlMwozfjzdbuc0XKWzVJKbqEJZVwkPGXsNpoQkqZJmpfZXXQvhDUhNCsoP0NnXJCyZGyCvi-uHW6MDwPWbhtMF_C1GVY49K6rR-ugN_1qDKAsrsfQWxWMwoPytcLnX7A13QZq7EFDCGYHuHG-fXaBXQdY2eAOrt6ZjbGuBt8qrAbv-pXRKlbaqaC3VnnAvXdLv3d0Szw4bMe2Xzk9DkYf9626j-400QkPjusUfXr9ajF_m1x-fPNu_vIyqViekYRWrKohrZjmmnNVi5JDRZtMUNEwQVmaAVW1JkzwpmCgSs1yrVJdiZxU8SCbohcHb7-tWqg1dINXVvbetMqP0ikjf086s5JLt5M0OgUvouDJUeDd1y2EQbYmaLBWdRCfWBaMFqyMXzFFj_8A127ru9iczAgXOSPkp-6fFC0KknNSpiJSFwdKexeCh-Z0YUrkfkxkHBNJS5nJOCYRf_Rrkyf4OBcxTw65CQN8O8XKb2S8UpHLD5_ncr6YX5Xvrwq5L__0wFft-n-Vz2_Im07-hv4AS_3mjg</recordid><startdate>19820601</startdate><enddate>19820601</enddate><creator>Branford, William A</creator><creator>Beveridge, George W</creator><creator>Wynne-Davies, Ruth</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>K9.</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19820601</creationdate><title>Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma</title><author>Branford, William A ; Beveridge, George W ; Wynne-Davies, Ruth</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b4530-1b4bde2b4c6c66ad896eb1f3818f481423e1adc0486f74ea9c45ca2cb850b74e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1982</creationdate><topic>Adult</topic><topic>Dysplasia</topic><topic>Female</topic><topic>Genes, Recessive</topic><topic>Genetic Linkage</topic><topic>Humans</topic><topic>Lymphoma</topic><topic>Lymphoma, Non-Hodgkin - genetics</topic><topic>Male</topic><topic>Mucopolysaccharidosis IV - genetics</topic><topic>Pedigree</topic><topic>Skin Diseases - genetics</topic><topic>Skin Neoplasms - genetics</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Branford, William A</creatorcontrib><creatorcontrib>Beveridge, George W</creatorcontrib><creatorcontrib>Wynne-Davies, Ruth</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Branford, William A</au><au>Beveridge, George W</au><au>Wynne-Davies, Ruth</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma</atitle><jtitle>Journal of medical genetics</jtitle><stitle>J Med Genet</stitle><addtitle>J Med Genet</addtitle><date>1982-06-01</date><risdate>1982</risdate><volume>19</volume><issue>3</issue><spage>210</spage><epage>213</epage><pages>210-213</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Two male cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form) are described. One presented with a poorly differentiated lymphocytic lymphoma of the skin in areas of poikiloderma atrophicans vasculare which had been present for 10 years.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>6809944</pmid><doi>10.1136/jmg.19.3.210</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
fulltext | fulltext |
identifier | ISSN: 0022-2593 |
ispartof | Journal of medical genetics, 1982-06, Vol.19 (3), p.210-213 |
issn | 0022-2593 1468-6244 1468-6244 |
language | eng |
recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1048867 |
source | PubMed Central (Open access) |
subjects | Adult Dysplasia Female Genes, Recessive Genetic Linkage Humans Lymphoma Lymphoma, Non-Hodgkin - genetics Male Mucopolysaccharidosis IV - genetics Pedigree Skin Diseases - genetics Skin Neoplasms - genetics X Chromosome |
title | Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma |
url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-05T11%3A12%3A26IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Two%20first%20cousins%20with%20spondyloepiphyseal%20dysplasia%20tarda%20(X%20linked%20recessive%20form),%20one%20also%20with%20poikiloderma%20atrophicans%20vasculare%20progressing%20to%20lymphocytic%20lymphoma&rft.jtitle=Journal%20of%20medical%20genetics&rft.au=Branford,%20William%20A&rft.date=1982-06-01&rft.volume=19&rft.issue=3&rft.spage=210&rft.epage=213&rft.pages=210-213&rft.issn=0022-2593&rft.eissn=1468-6244&rft.coden=JMDGAE&rft_id=info:doi/10.1136/jmg.19.3.210&rft_dat=%3Cproquest_pubme%3E74174901%3C/proquest_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-b4530-1b4bde2b4c6c66ad896eb1f3818f481423e1adc0486f74ea9c45ca2cb850b74e3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1770560928&rft_id=info:pmid/6809944&rfr_iscdi=true |