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