Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

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Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

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2016年论文

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name

Odonto-onycho-dermal dysplasia ...... ia in carriers of the mutation

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Odonto-onycho-dermal dysplasia ...... ia in carriers of the mutation

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Item

label

Odonto-onycho-dermal dysplasia ...... ia in carriers of the mutation

@ast

Odonto-onycho-dermal dysplasia ...... ia in carriers of the mutation

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prefLabel

Odonto-onycho-dermal dysplasia ...... ia in carriers of the mutation

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Odonto-onycho-dermal dysplasia ...... ia in carriers of the mutation

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P1476

Odonto-onycho-dermal dysplasia ...... ia in carriers of the mutation

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P2093

Hans Gjørup

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Ole Clemmensen

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P2860

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia

Phenotypic variability associated with WNT10A nonsense mutations

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome

Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds

Wnt10a regulates dentin sialophosphoprotein mRNA expression and possibly links odontoblast differentiation and tooth morphogenesis

Variability in dentofacial phenotypes in four families with WNT10A mutations

Mutations in WNT10A are present in more than half of isolated hypodontia cases.

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Eccrine syringofibroadenomatosis: a clinical and histologic study and review of the literature.

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s12895-016-0040-7

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scholarly article

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10.1186/S12895-016-0040-7

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Anette Bygum

Jens M Hertz

Anne Bruun Krøigård

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2016-03-10T00:00:00Z

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297753528

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1000128269

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26964878

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4785680

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