Two sisters resembling Gorlin-Chaudhry-Moss syndrome
Abstract
The Gorlin-Chaudhry-Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal intelligence. Two other sporadic instances have been documented. Here, we report on two sisters with a condition with some similarities to GCMS as well as some differences, which could represent either previously unreported variability in GCMS, or it may represent a novel disorder. © 2011 Wiley-Liss, Inc.
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Artículo de publicación SCOPUS
Identifier
URI: https://repositorio.uchile.cl/handle/2250/165349
DOI: 10.1002/ajmg.a.34204
ISSN: 15524825
15524833
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American Journal of Medical Genetics, Part A, Volumen 155, Issue 10, 2018, Pages 2552-2555
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