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Title: Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.
Authors: Castanet, M
Mallya, U
Agostini, M
Schoenmakers, E
Mitchell, C
Demuth, S
Raymond, FL
Schwabe, J
Gurnell, M
Chatterjee, VK
First Published: Aug-2010
Citation: J CLIN ENDOCRINOL METAB, 2010, 95 (8), pp. 4031-4036
Abstract: Homozygous loss-of-function mutations in forkhead box E1/thyroid transcription factor 2 (FOXE1/TTF-2) cause syndromic congenital hypothyroidism, with thyroid dysgenesis, cleft palate, spiky hair, and variable choanal atresia and bifid epiglottis in three cases reported hitherto. We have elucidated the molecular basis of the disorder in a female with a similar clinical phenotype, born to nonconsanguineous parents.
DOI Link: 10.1210/jc.2010-0275
eISSN: 1945-7197
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Biochemistry

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