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

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A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

P2860

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P2860

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

Item

http://www.wikidata.org/entity/Q40086730

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

2013年论文

@zh

2013年论文

@zh-cn

name

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

@en

type

Item

label

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

@en

prefLabel

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

@en

P1476

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

@en

P2093

Deepak Goyal

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

Dinesh Kumar Yadav

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

Sidharth Kumar Sethi

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

Sumaira Khalil

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

P2860

The Greig cephalopolysyndactyly syndrome

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

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.

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.

A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family.

P2888

s00431-013-1938-2

P304

1131-1135

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

P31

scholarly article

P356

10.1007/S00431-013-1938-2

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

P433

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

P478

172

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

P577

2013-01-19T00:00:00Z

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

P5875

234702127

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P698

23334564

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

P921

India

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

about

P2860

P2860

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

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P5875

P698

P921

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P5875

P698

P921