Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks, Alice S

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. [electronic resource] - American journal of human genetics Jul 2005 - 120-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0002-9297

10.1086/431244 doi


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