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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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Bibliografiske detaljer
Main Authors: Ballabio, A, Bardoni, B, Carrozzo, R, Andria, G, Bick, D, Campbell, L, Hamel, B, Ferguson-Smith, M A, Gimelli, G, Fraccaro, M
Format: Artigo
Sprog:Inglês
Udgivet: 1989
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC298630/
https://ncbi.nlm.nih.gov/pubmed/2602357
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