Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

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Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

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2017 nî lūn-bûn

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2017年学术文章

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Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

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Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

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Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

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Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

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Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

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Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

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P1476

Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome

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P2093

Frances Flinter

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P2860

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Vitamin A-retinoid signaling in pulmonary development and disease

Analysis of protein-coding genetic variation in 60,706 humans

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype

Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning

A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

Vitamin A deficiency (VAD), teratogenic, and surgical models of congenital diaphragmatic hernia (CDH).

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

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134-138

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scholarly article

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10.1002/AJMG.A.38529

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English

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P478

176

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Q39189173

André Reis

Francesca Pasutto

P577

2017-11-23T00:00:00Z

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P698

29168296

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