Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.

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Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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Novel variant in the TP63 gene ...... eft lip/palate (AEC) syndrome.

@en

Novel variant in the TP63 gene ...... mal dysplasia-cleft lip/palate

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label

Novel variant in the TP63 gene ...... eft lip/palate (AEC) syndrome.

@en

Novel variant in the TP63 gene ...... mal dysplasia-cleft lip/palate

@nl

prefLabel

Novel variant in the TP63 gene ...... eft lip/palate (AEC) syndrome.

@en

Novel variant in the TP63 gene ...... mal dysplasia-cleft lip/palate

@nl

P1476

Novel variant in the TP63 gene ...... eft lip/palate (AEC) syndrome.

@en

P2093

Francisco Gonzalez

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Jose M Abalo-Lojo

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Lourdes Loidi

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P2860

p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities

The p63 gene in EEC and other syndromes

Structural basis of p63α SAM domain mutants involved in AEC syndrome

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition

Ectodermal dysplasias: a clinical classification and a causal review.

p63-associated disorders.

Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.

Cloning and chromosomal mapping of the human p53-related KET gene to chromosome 3q27 and its murine homolog Ket to mouse chromosome 16.

P304

277-280

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scholarly article

P356

10.1080/13816810.2016.1210649

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P433

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P478

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P577

2016-08-02T00:00:00Z

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P698

27485918

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