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

doi:10.1002/humu.10310

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Article

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

Human mutation - 1 Feb 2004

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

Abstract excerpt

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...

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PMID: 14722918
DOI: 10.1002/humu.10310

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14722918-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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