Audiology by Alexandros G. Sfakianakis: Novel Sequence Variants in the MKKS Gene Cause Bardet-Biedl Syndrome with Intra- and Inter-Familial Variable Phenotypes.

Τετάρτη 13 Δεκεμβρίου 2017

Novel Sequence Variants in the MKKS Gene Cause Bardet-Biedl Syndrome with Intra- and Inter-Familial Variable Phenotypes.

Novel Sequence Variants in the MKKS Gene Cause Bardet-Biedl Syndrome with Intra- and Inter-Familial Variable Phenotypes.

Congenit Anom (Kyoto). 2017 Dec 12;:

Authors: Ullah A, Khalid M, Umair M, Khan SA, Bilal M, Khan S, Ahmad W

Abstract
Bardet-Biedl Syndrome (BBS) is a multisystem disorder involving retina, kidney, limbs and nervous system. Additional features associated with BBS include dental anomalies, cardiovascular defects, hearing loss and speech impairment (Beales et al. 199; Ullah and Umair et al. 2017). Diagnosis of BBS is based on the presence of four out of six primary or three primary and two secondary phenotypes.

PMID: 29232001 [PubMed - as supplied by publisher]

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Audiology by Alexandros G. Sfakianakis

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Τετάρτη 13 Δεκεμβρίου 2017

Novel Sequence Variants in the MKKS Gene Cause Bardet-Biedl Syndrome with Intra- and Inter-Familial Variable Phenotypes.

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