Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. [electronic resource]
Producer: 20050829Description: 120-6 p. digitalISSN:- 0002-9297
- Abnormalities, Multiple
- Base Sequence
- Chromosomes, Human, Pair 10
- Codon, Nonsense
- Consanguinity
- Enteric Nervous System -- abnormalities
- Female
- Hirschsprung Disease -- genetics
- Humans
- Intellectual Disability -- genetics
- Male
- Nerve Tissue Proteins
- Nervous System Malformations -- genetics
- Pedigree
- Syndrome
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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