Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report

Conclusions 2 novel heterozygous non-sense mutations were identified in the Chinese Child with Alstrom syndrome, expanding the ALMS1 gene mutations causing Alstrom syndrome. [...] © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  open access Full text

Source: Experimental and Clinical Endocrinology and Diabetes Reports - August 23, 2017 Category: Endocrinology Authors: Liu, Lanrong Li, Hong Shi, Lixin Tags: Case Report Source Type: research