Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

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Perinatal findings in a patient with a novel large chromosome 19p deletion

P2860

Q57652838-E6169CDD-BAEF-43F5-8173-45866FCE1362

P2860

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

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http://www.wikidata.org/entity/Q36664333

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2015 nî lūn-bûn

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2015年の論文

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@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

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2015年论文

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name

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

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Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

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Item

label

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

@ast

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

@en

prefLabel

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

@ast

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

@en

P1476

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

@en

P2093

Darrel Waggoner

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

Erik C Thorland

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Leila Khorasani

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Russell R Reid

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Sara Halbach

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Sarah M Lyon

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P2860

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Bone morphogenetic proteins

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans.

Genetics of craniosynostosis.

Erk1 positively regulates osteoclast differentiation and bone resorptive activity

Cognitive impact of craniosynostosis.

P304

347-352

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P31

scholarly article

P356

10.1016/J.GENDIS.2015.09.001

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P433

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

P478

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

P577

2015-09-21T00:00:00Z

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P5875

283867126

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P698

26966713

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P921

craniosynostosis

P932

4782977

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Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

about

P2860

P2860

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P921

P932