Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

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A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.

P2860

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

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2017 nî lūn-bûn

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2017年の論文

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

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P1476

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

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P2093

Changxin Wu

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

Dezhong Chen

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

Han Xiao

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

Jie Fu

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

Jing Wang

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

Na Zhao

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

Zhuoyu Li

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

P2860

An integrated map of genetic variation from 1,092 human genomes

Waardenburg syndrome

Exome sequencing identifies the cause of a mendelian disorder

Targeted capture and massively parallel sequencing of 12 human exomes

Fast and accurate short read alignment with Burrows-Wheeler transform

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium

A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

P2888

hgv.2017.27

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17027

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scholarly article

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10.1038/HGV.2017.27

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2017-06-29T00:00:00Z

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1090281846

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28690861

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5489998

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

about

P2860

P2860

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P577

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P577

P6179

P698

P932