| The clinical spectrum of homozygous HOXA1 mutations. | |
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MedLine Citation:
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PMID: 18412118 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Thomas M Bosley; Ibrahim A Alorainy; Mustafa A Salih; Hesham M Aldhalaan; Khaled K Abu-Amero; Darren T Oystreck; Max A Tischfield; Elizabeth C Engle; Robert P Erickson |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 May |
Date Detail:
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Created Date: 2008-04-29 Completed Date: 2008-05-28 Revised Date: 2008-06-20 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1235-40 Citation Subset: IM |
Copyright Information:
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2008 Wiley-Liss, Inc. |
Affiliation:
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The Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. bosley-thomas@cooperhealth.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
physiopathology* Adolescent Adult Cardiovascular Abnormalities / genetics Cerebrovascular Disorders / genetics Child Child, Preschool Cognition Disorders / genetics Deafness / genetics Family Female Genotype Homeodomain Proteins / genetics* Homozygote* Humans Indians, North American Male Musculoskeletal Abnormalities / genetics Mutation* Nervous System Malformations / genetics Ocular Motility Disorders / genetics Phenotype Saudi Arabia Syndrome Transcription Factors / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Homeodomain Proteins; 0/Transcription Factors; 0/homeobox A1 protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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