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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Detaylı Bibliyografya
Asıl Yazarlar: al-Gazali, L I, Mueller, R F, Caine, A, Antoniou, A, McCartney, A, Fitchett, M, Dennis, N R
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1990
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016884/
https://ncbi.nlm.nih.gov/pubmed/2308157
Etiketler: Etiketle
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