Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
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Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceA puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.AMACO is a component of the basement membrane-associated Fraser complex.Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.fras1 shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development.Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRαCongenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.Anorectal malformation: the etiological factors.A wedge-shaped anterior hairline extension associated with a tessier number 10 cleft.Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2.Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.Pharyngeal morphogenesis requires fras1-itga8-dependent epithelial-mesenchymal interaction.MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndromeAblepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders
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P2860
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
description
2011 nî lūn-bûn
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2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
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name
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
@ast
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
@en
Manitoba-oculo-tricho-anal
@nl
type
label
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
@ast
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
@en
Manitoba-oculo-tricho-anal
@nl
prefLabel
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
@ast
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
@en
Manitoba-oculo-tricho-anal
@nl
P2093
P2860
P50
P356
P1476
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
@en
P2093
A Murat Maga
Albert E Chudley
Anne M Slavotinek
Ashleigh Wheatley
Cassandre Labelle-Dumais
Catherine Chu
Douglas B Gould
Emilia K Bijlsma
P2860
P304
P356
10.1136/JMG.2011.089631
P407
P577
2011-04-20T00:00:00Z