Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Mendelian inherited disorders due to deletions of adjacent genes on a chromosome have been described as "contiguous gene syndromes." Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or ass...

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Detaylı Bibliyografya
Yayımlandı:Proc Natl Acad Sci U S A
Asıl Yazarlar: Ballabio, A, Bardoni, B, Carrozzo, R, Andria, G, Bick, D, Campbell, L, Hamel, B, Ferguson-Smith, M A, Gimelli, G, Fraccaro, M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 1989
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC298630/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2602357/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.24.10001
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