Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems
- 1 July 2005
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 77 (1) , 120-126
- https://doi.org/10.1086/431244
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- G Protein-Coupled Receptor-Dependent Development of Human Frontal CortexScience, 2004
- TPR proteins: the versatile helixPublished by Elsevier ,2003
- Pachygyria and cerebellar hypoplasia in a patient with a 2q22‐q23 deletion that includes the ZFHX1B geneAmerican Journal of Medical Genetics Part A, 2003
- Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C NeuropathyAmerican Journal of Human Genetics, 2003
- Polymicrogyria and absence of pineal gland due to PAX6 mutationAnnals of Neurology, 2003
- “Mowat‐Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies‐mental retardation syndrome caused by mutations in the zinc finger homeo box 1B geneAmerican Journal of Medical Genetics, 2002
- Detection and Integration of Genotyping Errors in Statistical GeneticsAmerican Journal of Human Genetics, 2002
- Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.Journal of Medical Genetics, 1998
- Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.Journal of Medical Genetics, 1988
- Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred ChildrenScience, 1987