Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

We describe two females with de novo X;Y translocations, who presented at birth with irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and orbital cysts. The features in these children are simi...

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Main Authors: al-Gazali, L I, Mueller, R F, Caine, A, Antoniou, A, McCartney, A, Fitchett, M, Dennis, N R
Format: Artigo
Sprog:Inglês
Udgivet: 1990
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016884/
https://ncbi.nlm.nih.gov/pubmed/2308157
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