Open AccessPhenotypes associated with replacement of His by Arg in the Pendred syndrome gene
Author(s) -
Eisuke Sato,
Tsutomu Nakashima,
Yuki Miura,
Atsushi Furuhashi,
Atsuo Nakayama,
N Mori,
Hideki Murakami,
Shinji Naganawa,
Masanori Tadokoro
Publication year - 2001
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje.0.1450697
Subject(s) - missense mutation , allele , goiter , medicine , endocrinology , hearing loss , genetics , mutation , thyroid , biology , gene , audiology
Pendred syndrome is often associated with inner ear malformations, especially enlarged vestibular aqueduct (EVA). Recently, mutations in the Pendred syndrome gene (PDS) have been reported in patients with EVA, in addition to those with classical Pendred syndrome.
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