Goltz syndrome: report of two severe cases.
Identifieur interne : 003706 ( Main/Corpus ); précédent : 003705; suivant : 003707Goltz syndrome: report of two severe cases.
Auteurs : Riddell W. Scott ; Eniko K. Pivnick ; Stacy H. Dowell ; James W. Eubanks ; Eunice Y. Huang ; Ignatia B. Van Den Veyver ; Xiaoling WangSource :
- BMJ case reports [ 1757-790X ] ; 2009.
Abstract
Goltz syndrome is a rare, X-linked dominant congenital disorder with abnormalities in derivatives of each of the three embryonic germ layers. Its clinical phenotype varies widely, ranging from isolated skin defects to absence of limbs and/or organs. The rarity and wide range of presentation contribute to delayed or missed diagnosis.
DOI: 10.1136/bcr.09.2008.0909
PubMed: 21686566
PubMed Central: PMC3028403
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pubmed:21686566Le document en format XML
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