Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of theNXF5 Gene-Reference-Cited by-同舟云学术

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of theNXF5 Gene

Published:2003-05-29 Issue:3 Volume:119A Page:367-374
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Frints Suzanna G.M.,Jun Lin,Fryns Jean-Pierre,Devriendt Koen,Teulingkx Rudi,Berghe Lut Van den,Vos Bernice De,Borghgraef Martine,Chelly Jamel,Portes Vincent Des,Bokhoven Hans Van,Hamel Ben,Ropers Hans-Hilger,Kalscheuer Vera,Raynaud Martine,Moraine Claude,Marynen Peter,Froyen Guy

Publisher

Wiley

Subject

Genetics (clinical)

Reference46 articles.

1. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course

2. The C-terminal domain of TAP interacts with the nuclear pore complex and promotes export of specific CTE-bearing RNA substrates

3. Genomic organization of TEL: the human ETS-variant gene 6.

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