TY  - GEN
AU  - Brooks,Alice S
AU  - Bertoli-Avella,Aida M
AU  - Burzynski,Grzegorz M
AU  - Breedveld,Guido J
AU  - Osinga,Jan
AU  - Boven,Ludolf G
AU  - Hurst,Jane A
AU  - Mancini,Grazia M S
AU  - Lequin,Maarten H
AU  - de Coo,Rene F
AU  - Matera,Ivana
AU  - de Graaff,Esther
AU  - Meijers,Carel
AU  - Willems,Patrick J
AU  - Tibboel,Dick
AU  - Oostra,Ben A
AU  - Hofstra,Robert M W
TI  - Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems
SN  - 0002-9297
PY  - 2005///0829
KW  - Abnormalities, Multiple
KW  - Base Sequence
KW  - Chromosomes, Human, Pair 10
KW  - Codon, Nonsense
KW  - Consanguinity
KW  - Enteric Nervous System
KW  - abnormalities
KW  - Female
KW  - Hirschsprung Disease
KW  - genetics
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Nerve Tissue Proteins
KW  - Nervous System Malformations
KW  - Pedigree
KW  - Syndrome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/431244
ER  -