R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations

Saved in:
Bibliographic Details
Published in:American Journal of Medical Genetics Part A 2012, Vol.158A (3), p.664-668
Main Authors: Richer, J., Milewicz, D.M., Gow, R., de Nanassy, J., Maharajh, G., Miller, E., Oppenheimer, L., Weiler, G., O'Connor, M.
Format: Report
Language:English
Subjects:
ACTA2
aneurysm
deep skin creases
megacystis
mydriasis
patent ductus arteriosus
prune-belly
skin dimple
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites
container_end_page 668
container_issue 3
container_start_page 664
container_title American Journal of Medical Genetics Part A
container_volume 158A
creator Richer, J.
Milewicz, D.M.
Gow, R.
de Nanassy, J.
Maharajh, G.
Miller, E.
Oppenheimer, L.
Weiler, G.
O'Connor, M.
description
doi_str_mv 10.1002/ajmg.a.35206
format report
fullrecord <record><control><sourceid>istex</sourceid><recordid>TN_cdi_istex_primary_ark_67375_WNG_29ZV2R8N_F</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>ark_67375_WNG_29ZV2R8N_F</sourcerecordid><originalsourceid>FETCH-istex_primary_ark_67375_WNG_29ZV2R8N_F3</originalsourceid><addsrcrecordid>eNqVjMsKwjAURIMo-Nz5AfcHWtPEtLoU8bFyIaLgJkS91mib1iYF-_cWFPeuZhjOHEKGAfUDStlI3dPYVz4XjIYN0gmEYN54wnnz15lok661d0o5FVHYIfE2iKZrSEunnM4MaAOz-W7GAF-5MhdtYnA3hPyGJnNVjuCymjkn5aUei9Kgd8IkqcDis0RzRqhPYB-1JlVGX9F-vLZPWleVWBx8s0e85WI3X3vaOnzJvNCpKiqpiocMIx4JedisJJse92w72cgl_5d_A6gzU9Q</addsrcrecordid><sourcetype>Publisher</sourcetype><iscdi>true</iscdi><recordtype>report</recordtype></control><display><type>report</type><title>R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations</title><source>Wiley-Blackwell Read &amp; Publish Collection</source><creator>Richer, J. ; Milewicz, D.M. ; Gow, R. ; de Nanassy, J. ; Maharajh, G. ; Miller, E. ; Oppenheimer, L. ; Weiler, G. ; O'Connor, M.</creator><creatorcontrib>Richer, J. ; Milewicz, D.M. ; Gow, R. ; de Nanassy, J. ; Maharajh, G. ; Miller, E. ; Oppenheimer, L. ; Weiler, G. ; O'Connor, M.</creatorcontrib><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.35206</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>ACTA2 ; aneurysm ; deep skin creases ; megacystis ; mydriasis ; patent ductus arteriosus ; prune-belly ; skin dimple</subject><ispartof>American Journal of Medical Genetics Part A, 2012, Vol.158A (3), p.664-668</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>780,784,4490,27925</link.rule.ids></links><search><creatorcontrib>Richer, J.</creatorcontrib><creatorcontrib>Milewicz, D.M.</creatorcontrib><creatorcontrib>Gow, R.</creatorcontrib><creatorcontrib>de Nanassy, J.</creatorcontrib><creatorcontrib>Maharajh, G.</creatorcontrib><creatorcontrib>Miller, E.</creatorcontrib><creatorcontrib>Oppenheimer, L.</creatorcontrib><creatorcontrib>Weiler, G.</creatorcontrib><creatorcontrib>O'Connor, M.</creatorcontrib><title>R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations</title><title>American Journal of Medical Genetics Part A</title><addtitle>Am. J. Med. Genet</addtitle><subject>ACTA2</subject><subject>aneurysm</subject><subject>deep skin creases</subject><subject>megacystis</subject><subject>mydriasis</subject><subject>patent ductus arteriosus</subject><subject>prune-belly</subject><subject>skin dimple</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2012</creationdate><recordtype>report</recordtype><recordid>eNqVjMsKwjAURIMo-Nz5AfcHWtPEtLoU8bFyIaLgJkS91mib1iYF-_cWFPeuZhjOHEKGAfUDStlI3dPYVz4XjIYN0gmEYN54wnnz15lok661d0o5FVHYIfE2iKZrSEunnM4MaAOz-W7GAF-5MhdtYnA3hPyGJnNVjuCymjkn5aUei9Kgd8IkqcDis0RzRqhPYB-1JlVGX9F-vLZPWleVWBx8s0e85WI3X3vaOnzJvNCpKiqpiocMIx4JedisJJse92w72cgl_5d_A6gzU9Q</recordid><startdate>201203</startdate><enddate>201203</enddate><creator>Richer, J.</creator><creator>Milewicz, D.M.</creator><creator>Gow, R.</creator><creator>de Nanassy, J.</creator><creator>Maharajh, G.</creator><creator>Miller, E.</creator><creator>Oppenheimer, L.</creator><creator>Weiler, G.</creator><creator>O'Connor, M.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope></search><sort><creationdate>201203</creationdate><title>R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations</title><author>Richer, J. ; Milewicz, D.M. ; Gow, R. ; de Nanassy, J. ; Maharajh, G. ; Miller, E. ; Oppenheimer, L. ; Weiler, G. ; O'Connor, M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-istex_primary_ark_67375_WNG_29ZV2R8N_F3</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2012</creationdate><topic>ACTA2</topic><topic>aneurysm</topic><topic>deep skin creases</topic><topic>megacystis</topic><topic>mydriasis</topic><topic>patent ductus arteriosus</topic><topic>prune-belly</topic><topic>skin dimple</topic><toplevel>online_resources</toplevel><creatorcontrib>Richer, J.</creatorcontrib><creatorcontrib>Milewicz, D.M.</creatorcontrib><creatorcontrib>Gow, R.</creatorcontrib><creatorcontrib>de Nanassy, J.</creatorcontrib><creatorcontrib>Maharajh, G.</creatorcontrib><creatorcontrib>Miller, E.</creatorcontrib><creatorcontrib>Oppenheimer, L.</creatorcontrib><creatorcontrib>Weiler, G.</creatorcontrib><creatorcontrib>O'Connor, M.</creatorcontrib><collection>Istex</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Richer, J.</au><au>Milewicz, D.M.</au><au>Gow, R.</au><au>de Nanassy, J.</au><au>Maharajh, G.</au><au>Miller, E.</au><au>Oppenheimer, L.</au><au>Weiler, G.</au><au>O'Connor, M.</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations</atitle><jtitle>American Journal of Medical Genetics Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2012-03</date><risdate>2012</risdate><volume>158A</volume><issue>3</issue><spage>664</spage><epage>668</epage><pages>664-668</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><doi>10.1002/ajmg.a.35206</doi></addata></record>
fulltext fulltext
identifier ISSN: 1552-4825
ispartof American Journal of Medical Genetics Part A, 2012, Vol.158A (3), p.664-668
issn 1552-4825
1552-4833
language eng
recordid cdi_istex_primary_ark_67375_WNG_29ZV2R8N_F
source Wiley-Blackwell Read & Publish Collection
subjects ACTA2
aneurysm
deep skin creases
megacystis
mydriasis
patent ductus arteriosus
prune-belly
skin dimple
title R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-29T11%3A02%3A19IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-istex&rft_val_fmt=info:ofi/fmt:kev:mtx:book&rft.genre=unknown&rft.atitle=R179H%20mutation%20in%20ACTA2%20expanding%20the%20phenotype%20to%20include%20prune-belly%20sequence%20and%20skin%20manifestations&rft.jtitle=American%20Journal%20of%20Medical%20Genetics%20Part%20A&rft.au=Richer,%20J.&rft.date=2012-03&rft.volume=158A&rft.issue=3&rft.spage=664&rft.epage=668&rft.pages=664-668&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.35206&rft_dat=%3Cistex%3Eark_67375_WNG_29ZV2R8N_F%3C/istex%3E%3Cgrp_id%3Ecdi_FETCH-istex_primary_ark_67375_WNG_29ZV2R8N_F3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_id=info:pmid/&rfr_iscdi=true