Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
- 3 June 2010
- journal article
- other
- Published by Elsevier in American Journal of Human Genetics
- Vol. 86 (6), 957-962
- https://doi.org/10.1016/j.ajhg.2010.04.016
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Ochoa syndrome: a spectrum of urofacial syndromeEuropean Journal of Pediatrics, 2009
- Diagnosis and management of dysfunctional voidingCurrent Opinion in Pediatrics, 2006
- Voiding dysfunction in childrenUrologic Clinics of North America, 2004
- Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updatedPediatric Nephrology, 2004
- High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical regionAmerican Journal of Medical Genetics Part A, 2003
- Cloning and Expression Profiling of Hpa2, a Novel Mammalian Heparanase Family MemberBiochemical and Biophysical Research Communications, 2000
- Dysfunctional VoidingPediatrics in Review, 2000
- Construction of a Physical and Transcript Map for a 1-Mb Genomic Region Containing the Urofacial (Ochoa) Syndrome Gene on 10q23–q24 and Localization of the Disease Gene within Two Overlapping BAC Clones (<360 kb)Genomics, 1999
- Homozygosity and Linkage‐Disequilibrium Mapping of the Urofacial (Ochoa) Syndrome Gene to a 1‐cM Interval on Chromosome 10q23‐q24American Journal of Human Genetics, 1997
- Urofacial (Ochoa) syndromeAmerican Journal of Medical Genetics, 1987