Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient.

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Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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Atypical CHARGE associated wit ...... in a Chinese neonatal patient.

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Atypical CHARGE associated wit ...... in a Chinese neonatal patient.

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Atypical CHARGE associated wit ...... in a Chinese neonatal patient.

@en

Atypical CHARGE associated wit ...... in a Chinese neonatal patient.

@nl

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Atypical CHARGE associated wit ...... in a Chinese neonatal patient.

@en

Atypical CHARGE associated wit ...... in a Chinese neonatal patient.

@nl

P1476

Atypical CHARGE associated wit ...... in a Chinese neonatal patient.

@en

P2093

Jiajun Zhu

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Li-Ping Shi

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Yan-Ping Xu

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P2860

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome

Choanal atresia and associated multiple anomalies

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

Target-enrichment strategies for next-generation sequencing.

Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.

A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome.

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.

P2888

s12887-018-1181-0

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scholarly article

case report

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10.1186/S12887-018-1181-0

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2018-06-26T00:00:00Z

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1105154668

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29945602

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6020284

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