Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
about
Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
P2860
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
description
2012 nî lūn-bûn
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name
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
@ast
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
@en
type
label
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
@ast
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
@en
prefLabel
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
@ast
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
@en
P2093
P2860
P1433
P1476
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome
@en
P2093
Ordan J Lehmann
Robertino Karlo Mateo
Royce Johnson
P2860
P304
P577
2012-05-30T00:00:00Z