GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

about

GLI3-related polydactyly: a review.

P2860

Q39146281-97A47D12-9D62-430A-9DAB-D1170CB2F2EE

P2860

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

Item

http://www.wikidata.org/entity/Q48113495

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh

2015年學術文章

@zh-hant

name

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

@en

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

@nl

type

Item

label

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

@en

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

@nl

prefLabel

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

@en

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

@nl

P1476

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

@en

P2093

Chandra Bhan Singh

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

Rashmi Patel

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

Subodh Kumar Singh

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

Visweswar Bhattacharya

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

P2860

The Greig cephalopolysyndactyly syndrome

Point mutations in GLI3 lead to misregulation of its subcellular localization.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations

Essential roles of Gli3 and sonic hedgehog in pattern formation and developmental anomalies caused by their dysfunction.

Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.

A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient.

P304

94-97

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

P31

scholarly article

P356

10.1111/CGA.12139

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

P433

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

P478

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

P50

Akhtar Ali

P577

2015-10-27T00:00:00Z

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

P698

26508445

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

P921

India

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

about

P2860

P2860

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921