Microphthalmia with linear skin defects syndrome. - Wikidata - awgldk - TriplyDB

Microphthalmia with linear skin defects syndrome.

Microphthalmia with linear skin defects syndrome.

http://www.wikidata.org/entity/Q46496007

about

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

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Microphthalmia with linear skin defects syndrome.

http://www.wikidata.org/entity/Q46496007

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

@wuu

2012年学术文章

@zh

2012年学术文章

@zh-cn

2012年学术文章

@zh-hans

2012年学术文章

@zh-my

2012年学术文章

@zh-sg

2012年學術文章

@yue

2012年學術文章

@zh-hant

name

Microphthalmia with linear skin defects syndrome.

@en

Microphthalmia with linear skin defects syndrome.

@nl

type

label

Microphthalmia with linear skin defects syndrome.

@en

Microphthalmia with linear skin defects syndrome.

@nl

prefLabel

Microphthalmia with linear skin defects syndrome.

@en

Microphthalmia with linear skin defects syndrome.

@nl

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P356

J.1525-1470.2012.01735.X

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Pediatric Dermatology

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Microphthalmia with linear skin defects syndrome.

@en

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Ana García-Rabasco

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

Blanca De-Unamuno

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

Isabel Febrer-Bosch

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

Víctor Alegre-de-Miquel

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P2860

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.

Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.

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e230-1

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scholarly article

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10.1111/J.1525-1470.2012.01735.X

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6

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30

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Francisco Martinez

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2012-05-21T00:00:00Z

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22612277

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