Literature DB >> 28762477

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

A Lavillaureix1, S Heide1,2, S Chantot-Bastaraud1, I Marey2, B Keren2, R Grigorescu1, J M Jouannic3, A Gelot4,5, S Whalen6, D Héron2,6,7, J P Siffroi1.   

Abstract

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Year:  2017        PMID： 28762477     DOI： 10.1111/cge.13062

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene.

Authors:  Hiroki Yagi; Hiroshi Takiguchi; Norifumi Takeda; Ryo Inuzuka; Yuki Taniguchi; Kristine Joyce Porto; Hiroyuki Ishiura; Jun Mitsui; Hiroyuki Morita; Issei Komuro
Journal:  Clin Case Rep       Date:  2022-02-09

2.  Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly.

Authors:  Jiayong Qiu; Yao Lou; Yingwei Zhu; Min Wang; Huifang Peng; Yingying Hao; Hongwei Jiang; Yimin Mao
Journal:  Front Genet       Date:  2022-01-19       Impact factor: 4.599

3.  Delineation of dual molecular diagnosis in patients with skeletal deformity.

Authors:  Lian Liu; Liying Sun; Yujun Chen; Muchuan Wang; Chenxi Yu; Yingzhao Huang; Sen Zhao; Huakang Du; Shaoke Chen; Xin Fan; Wen Tian; Zhihong Wu; Guixing Qiu; Terry Jianguo Zhang; Nan Wu
Journal:  Orphanet J Rare Dis       Date:  2022-03-28       Impact factor: 4.123

Review 4.  The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

Authors:  Silke Peeters; Pauline De Kinderen; Josephina A N Meester; Aline Verstraeten; Bart L Loeys
Journal:  Hum Mutat       Date:  2022-04-28       Impact factor: 4.700

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

Authors:  Shiyuan Zhou; Fengyu Wang; Yongheng Dou; Jiping Zhou; Gefang Hao; Chengqi Xu; Qing K Wang; Haili Wang; Pengyun Wang
Journal:  Clin Case Rep       Date:  2018-07-03
  5 in total

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