The Clinical Spectrum of Homozygous HOXA1 Mutations

We report nine new individuals from six families who have homozygous mutations of HOXA1 with 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 horiz...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3517166/
https://ncbi.nlm.nih.gov/pubmed/18412118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32262
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