Concepedia

Publication | Open Access

Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

DOIFull Paper Access

72

Citations

24

References

2017

Year

Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed Al‐Owain, Hamad Alzaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait,
Annals of Neurology

Abstract

MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004-1015.

References

YearCitations

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