A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family-Reference-Cited by-同舟云学术

A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family

Author:

Zhou Shiyuan¹²,Wang Fengyu¹²,Dou Yongheng¹²,Zhou Jiping¹²,Hao Gefang¹²,Xu Chengqi³^ORCID,Wang Qing K.³,Wang Haili¹²,Wang Pengyun⁴

Affiliation:

1. Henan Provincial Research Institute for Population and Family Planning; Zhengzhou China

2. Key Laboratory of Birthdefects Prevention; National Health and Family Planning Commission; Zhengzhou China

3. College of Life Science and Technology and Human Genome Research Center; Huazhong University of Science and Technology; Wuhan China

4. Department of Clinical Laboratory; Liyuan Hospital; Tongji Medical Collage; Huazhong University of Science and Technology; Wuhan China

Funder

Social welfare project special funds of Henan Province

National Natural Science Foundation of China

Publisher

Wiley

Subject

General Medicine

Link

Reference34 articles.

1. The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate;Philip;Pediatrie,1988

5. “New” syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896;Hecht;Pediatrics,1972

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