Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

Kato, Mitsuhiro; Das, Soma; Petras, Kristin; Kitamura, Kunio; Morohashi, Ken‐ichirou; Abuelo, Diane; Barr, Mason; Bonneau, Dominique; F. Brady, Angela; J. Carpenter, Nancy; L. Cipero, Karen; Frisone, Francesco; Fukuda, Takayuki; Guerrini, Renzo; Iida, E; Itoh, Masayuki; Feldman Lewanda, Amy; Nanba, Yukiko; Oka, Akira; K. Proud, Virginia; Saugier-Véber, Pascale; Schelley, Susan; Selicorni, Angelo; Shaner, Rachel; Silengo, Margherita; Stewart, Fiona; Sugiyama, Noriyuki; Toyama, Jun; Toutain, Annick; Lía Vargas, Ana; Yanazawa, Masako; H. Zackai, Elaine; B. Dobyns, William

doi:10.1002/humu.10310

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Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

Published in Human Mutation • Jan 9, 2004

Authors:

Mitsuhiro Kato

Soma Das

Kristin Petras

Abstract

We recently identified mutations of ARX in nine genotypic males with X-linked lissencephaly with abnormal genitalia (XLAG), and in several female relatives with isolated agenesis of the corpus callosum (ACC). We now report 13 novel and two recurrent mutations of ARX, and one nucleotide change of unc...

Subject

Biology

Pleiotropy

Phenotype

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