Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants-Reference-Cited by-同舟云学术

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants

Published:2017-11 Issue: Volume:474 Page:159-164
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Hu Xuyun^ORCID,Li Hongdou,Gui Baoheng,Xu Yufei,Wang Jin,Li Niu,Su Jiasun,Zhang Shujie,Song Yanning,Wang Yi,Luo Jingsi,Fan Xin,Wang Jian,Chen Shaoke,Gong Chunxiu,Shen Yiping

Funder

Shanghai Science and Technology Commission

“Eastern Scholar” Fund

Natural Science Foundation of China

General Program of National Natural Science Foundation of China

Major Research Plan of the Provincial Science and Technology Foundation of Guangxi

China Scholarship Council

GeneScience Pharmaceuticals Co., Ltd.

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference22 articles.

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2. Clinical utility gene card for: 3-M syndrome - update 2013;Holder-Espinasse;Eur. J. Hum. Genet.,2014

3. The 3-M syndrome: a heritable low birthweight dwarfism;Miller;Birth Defects Orig. Artic. Ser.,1975

4. Identification of mutations in CUL7 in 3-M syndrome;Huber;Nat. Genet.,2005

5. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1;Hanson;Am. J. Hum. Genet.,2009

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