A novel MED12 mutation: Evidence for a fourth phenotype.
about
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia.MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.A novel variant in MED12 gene: Further delineation of phenotype.
P2860
A novel MED12 mutation: Evidence for a fourth phenotype.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
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2016年學術文章
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2016年學術文章
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name
A novel MED12 mutation: Evidence for a fourth phenotype.
@en
A novel MED12 mutation: Evidence for a fourth phenotype.
@nl
type
label
A novel MED12 mutation: Evidence for a fourth phenotype.
@en
A novel MED12 mutation: Evidence for a fourth phenotype.
@nl
prefLabel
A novel MED12 mutation: Evidence for a fourth phenotype.
@en
A novel MED12 mutation: Evidence for a fourth phenotype.
@nl
P2093
P2860
P356
P1476
A novel MED12 mutation: Evidence for a fourth phenotype
@en
P2093
Amedea Mencarelli
Anneke Vulto-van Silfhout
Daniela Rogaia
Gabriela Stangoni
Giuseppe Merla
Ilenia Isidori
Natascia Malerba
Paolo Prontera
Pfundt Rolph
Valentina Ottaviani
P2860
P304
P356
10.1002/AJMG.A.37805
P407
P577
2016-06-17T00:00:00Z