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 associated in...

Ausführliche Beschreibung

Bibliografische Detailangaben

Veröffentlicht in:	Proc Natl Acad Sci U S A
Hauptverfasser:	Ballabio, A, Bardoni, B, Carrozzo, R, Andria, G, Bick, D, Campbell, L, Hamel, B, Ferguson-Smith, M A, Gimelli, G, Fraccaro, M
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	National Academy of Sciences 1989
Schlagworte:	Research Article
Online-Zugang:	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
Tags:	Tag hinzufügen Keine Tags, Fügen Sie das erste Tag hinzu!