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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
The clinical spectrum of homozygous HOXA1 mutations
American Journal of Medical Genetics, Part A, Volume 146, No. 10, Year 2008
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Description
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 clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations. Two ABDS probands had relatively mild mental retardation. These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum. © 2008 Wiley-Liss, Inc.
Authors & Co-Authors
Bosley, Thomas M.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
United States, Camden
Cooper University Hospital
Alorainy, Ibrahim A.
Saudi Arabia, Riyadh
King Khalid University Hospital
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
King Khalid University Hospital
AlDhalaan, Hesham M.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Abu-Amero, Khaled Khader
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Oystreck, Darren T.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
United States, Boston
Boston Children's Hospital
Tischfield, Max A.
United States, Boston
Boston Children's Hospital
Engle, Elizabeth C.
United States, Boston
Boston Children's Hospital
Erickson, Robert P.
United States, Tucson
University of Arizona College of Medicine – Tucson
Statistics
Citations: 100
Authors: 9
Affiliations: 6
Identifiers
Doi:
10.1002/ajmg.a.32262
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics
Noncommunicable Diseases