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Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
- Source :
-
Journal of Clinical Investigation . 2/15/2002, Vol. 109 Issue 4, p475. 6p. - Publication Year :
- 2002
-
Abstract
- Describes five patients with variable degrees of congenital hypothyroidism who suffered from choreoathetosis, muscular hypotonia and pulmonary problems. Definition of choreoathetosis; Phenotype of NKX2-1 mutant patients; Position of aa exchange due to the NKX2-1 mutations and structural consequences for the DNA interaction.
- Subjects :
- *CONGENITAL hypothyroidism
*MUSCLE hypotonia
*DNA
Subjects
Details
- Language :
- English
- ISSN :
- 00219738
- Volume :
- 109
- Issue :
- 4
- Database :
- Academic Search Index
- Journal :
- Journal of Clinical Investigation
- Publication Type :
- Academic Journal
- Accession number :
- 9043321
- Full Text :
- https://doi.org/10.1172/JCI200214341