A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans-Reference-Cited by-同舟云学术

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans

Published:2011-09 Issue:5 Volume:54 Page:e484-e488
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Mosrati Mohamed Ali,Hammami Boutheina,Rebeh Imen Ben,Ayadi Leila,Dhouib Leila,Ben mahfoudh Khaireddine,Hakim Bochra,Charfeddine Ilhem,Mnif Jameleddine,Ghorbel Abdelmonem,Masmoudi Saber

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

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3. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings;Ceruti;Otol. Neurotol.,2002

4. Genetic heterogeneity associated with branchio-oto-renal syndrome;Kumar;Am. J. Med. Genet.,1999

5. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family;Abdelhak;Nat. Genet.,1997

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3. Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea;Scientific Reports;2023-07-21

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