Baraitser and Winter syndrome with growth hormone deficiency

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Baraitser and Winter syndrome with growth hormone deficiency

Item

http://www.wikidata.org/entity/Q42258958

description

2014 nî lūn-bûn

@nan

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

2014年论文

@zh

2014年论文

@zh-cn

name

Baraitser and Winter syndrome with growth hormone deficiency

@en

Baraitser and Winter syndrome with growth hormone deficiency

@nl

type

Item

label

Baraitser and Winter syndrome with growth hormone deficiency

@en

Baraitser and Winter syndrome with growth hormone deficiency

@nl

prefLabel

Baraitser and Winter syndrome with growth hormone deficiency

@en

Baraitser and Winter syndrome with growth hormone deficiency

@nl

P1476

Baraitser and Winter syndrome with growth hormone deficiency

@en

P2093

Farida Chentli

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

Hadjer Zellagui

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P2860

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.

The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.

A computerised data base for the diagnosis of rare dysmorphic syndromes.

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome

Actin structure and function.

Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?

A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.

P304

257-259

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P31

scholarly article

case report

P356

10.4103/1817-1745.147583

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P433

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

P478

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

P577

2014-09-01T00:00:00Z

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P698

25624931

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P932

4302548

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