TY  - GEN
AU  - Castanet,Mireille
AU  - Park,Soo-Mi
AU  - Smith,Aaron
AU  - Bost,Michel
AU  - Léger,Juliane
AU  - Lyonnet,Stanislas
AU  - Pelet,Anna
AU  - Czernichow,Paul
AU  - Chatterjee,Krishna
AU  - Polak,Michel
TI  - A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
SN  - 0964-6906
PY  - 2003///0203
KW  - Adolescent
KW  - Adult
KW  - Cleft Palate
KW  - genetics
KW  - Congenital Hypothyroidism
KW  - Consanguinity
KW  - DNA
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Female
KW  - Forkhead Transcription Factors
KW  - Humans
KW  - Hypothyroidism
KW  - Infant
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Pedigree
KW  - Polymorphism, Single-Stranded Conformational
KW  - Protein Binding
KW  - Repressor Proteins
KW  - Sequence Homology, Amino Acid
KW  - Thyroid Gland
KW  - abnormalities
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/11.17.2051
ER  -