A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. [electronic resource]
Producer: 20030203Description: 2051-9 p. digitalISSN:- 0964-6906
- Adolescent
- Adult
- Cleft Palate -- genetics
- Congenital Hypothyroidism
- Consanguinity
- DNA -- genetics
- DNA Mutational Analysis
- DNA-Binding Proteins -- genetics
- Female
- Forkhead Transcription Factors
- Humans
- Hypothyroidism -- genetics
- Infant
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Protein Binding
- Repressor Proteins -- genetics
- Sequence Homology, Amino Acid
- Thyroid Gland -- abnormalities
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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