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:
Bibliographic Details
Published in:Journal of medical genetics 1982-06, Vol.19 (3), p.210-213
Main Authors: Branford, William A, Beveridge, George W, Wynne-Davies, Ruth
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 &amp; 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