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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2008
Teme:
Article
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items