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A nonsense variant inFBN1caused autosomal dominant Marfan syndrome in a Chinese family: a case report

Date of Publication:2020-10-21 Hits:

Affiliation of Author(s):生殖医学研究中心
Journal:BMC MEDICAL GENETICS
First Author:牛玉萍
Document Code:B5ED9B77482E44B2BE2B3E3C12A87CF4
Volume:21
Issue:1
Number of Words:8
Translation or Not:no
Date of Publication:2020-10-21

Pre One:A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

Next One:Complex preimplantation genetic tests for Robertsonian translocation, HLA and X-Linked Hyper IgM Syndrome caused by a novel mutation of CD40LG gene

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