Open AccessFunctional Study of a Novel Single Deletion in theTITF1/NKX2.1Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress
Author(s) -
Christian M. Moya,
Guiomar Pérez de Nanclares,
Luís Castaño,
Neus Potau,
José Ramón Bilbao,
Antonio Carrascosa,
María Bargadá,
R. Coya,
P. Martul,
E Vicens-Calvet,
Pilar Santisteban
Publication year - 2006
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2005-1497
Subject(s) - homeobox , chorea , congenital hypothyroidism , medicine , endocrinology , gene , distress , genetics , biology , transcription factor , thyroid , clinical psychology , disease
We studied two sisters with congenital hypothyroidism and choreoathetosis but not respiratory distress.
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