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Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome
Alter, Svenja, Hotz, Alrun, Jahn, Arne, Di Donato, Nataliya, Schröck, Evelin, Smitka, Martin, von der Hagen, Maja, Schallner, Jens, Menschikowski, Mario, Gillitzer, Claus, Laass, Martin W., Fischer, JLanguage:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.40634
Date:
December, 2018
File:
PDF, 1.80 MB
english, 2018