Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
about
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.Pharyngeal morphogenesis requires fras1-itga8-dependent epithelial-mesenchymal interaction.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Molecular biology and genetics of embryonic eyelid development.
P2860
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
description
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name
Novel FREM1 mutations expand t ...... malformations (BNAR) syndrome.
@en
Novel FREM1 mutations expand t ...... ith Manitoba-oculo-tricho-anal
@nl
type
label
Novel FREM1 mutations expand t ...... malformations (BNAR) syndrome.
@en
Novel FREM1 mutations expand t ...... ith Manitoba-oculo-tricho-anal
@nl
prefLabel
Novel FREM1 mutations expand t ...... malformations (BNAR) syndrome.
@en
Novel FREM1 mutations expand t ...... ith Manitoba-oculo-tricho-anal
@nl
P2093
P2860
P356
P1476
Novel FREM1 mutations expand t ...... malformations (BNAR) syndrome.
@en
P2093
Amihood Singer
Anne Slavotinek
Jane Hurst
Jared Nathanson
Nahla Khalek
Wendy Jones
P2860
P304
P356
10.1002/AJMG.A.35736
P407
P577
2013-02-08T00:00:00Z