A novel variant in MED12 gene: Further delineation of phenotype.

about

A novel variant in MED12 gene: Further delineation of phenotype.

Item

http://www.wikidata.org/entity/Q52639570

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

A novel variant in MED12 gene: Further delineation of phenotype.

@en

A novel variant in MED12 gene: Further delineation of phenotype.

@nl

type

Item

label

A novel variant in MED12 gene: Further delineation of phenotype.

@en

A novel variant in MED12 gene: Further delineation of phenotype.

@nl

prefLabel

A novel variant in MED12 gene: Further delineation of phenotype.

@en

A novel variant in MED12 gene: Further delineation of phenotype.

@nl

P1476

A novel variant in MED12 gene: Further delineation of phenotype.

@en

P2093

Dhanya L Narayanan

http://www.w3.org/2001/XMLSchema#string

Shubha R Phadke

http://www.w3.org/2001/XMLSchema#string

P2860

A form of X-linked mental retardation with marfanoid habitus.

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Two additional cases of the Ohdo blepharophimosis syndrome.

Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

Mutations in MED12 cause X-linked Ohdo syndrome

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

A novel MED12 mutation: Evidence for a fourth phenotype.

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

P304

2257-2260

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/AJMG.A.38295

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

173

http://www.w3.org/2001/XMLSchema#string

P50

Shubha R Phadke

Dhanya L Narayanan

P577

2017-05-23T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

28544239

http://www.w3.org/2001/XMLSchema#string