Article

Mutations in HPSE2 Cause Urofacial Syndrome

2010-08-13

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 32f10944-c499-50cc-97bf-33e2ba21f9fa
DOI: 10.1016/j.ajhg.2010.07.010
PMCID: PMC2917722

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mutations in HPSE2 Cause Urofacial SyndromeDOI 10.1016/j.ajhg.2010.07.010Read

Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial SyndromeSemantic proximity Read

First HPSE2 missense mutation in urofacial syndrome.Semantic proximity Read

Mutations in HPSE2 cause urofacial syndrome.Semantic proximity Read

HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.Semantic proximity Read

Clinical and genetic characteristics for the Urofacial Syndrome (UFS).Semantic proximity Read

Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.Semantic proximity Read

Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.Semantic proximity Read

Urofacial (ochoa) syndrome: A literature review.Semantic proximity Read

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary BladderSemantic proximity Read

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.Semantic proximity Read

LRIG2 mutations cause urofacial syndrome.Semantic proximity Read

Urinary tract effects of HPSE2 mutations.Semantic proximity Read