Article
The clinical spectrum of homozygous HOXA1 mutations.
American journal of medical genetics. Part A - 15 May 2008
Bosley Thomas M, Alorainy Ibrahim A, Salih Mustafa A, Aldhalaan Hesham M, Abu-Amero Khaled K, Oystreck Darren T, Tischfield Max A, Engle Elizabeth C, Erickson Robert P
Abstract excerpt
We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a...
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