Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias-Reference-Cited by-同舟云学术

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Published:2011-07 Issue:1 Volume:89 Page:7-14
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Le Goff Carine,Mahaut Clémentine,Wang Lauren W.,Allali Slimane,Abhyankar Avinash,Jensen Sacha,Zylberberg Louise,Collod-Beroud Gwenaelle,Bonnet Damien,Alanay Yasemin,Brady Angela F.,Cordier Marie-Pierre,Devriendt Koen,Genevieve David,Kiper Pelin Özlem Simsek,Kitoh Hiroshi,Krakow Deborah,Lynch Sally Ann,Le Merrer Martine,Mégarbane André,Mortier Geert,Odent Sylvie,Polak Michel,Rohrbach Marianne,Sillence David,Stolte-Dijkstra Irene,Superti-Furga Andrea,Rimoin David L.,Topouchian Vicken,Unger Sheila,Zabel Bernhard,Bole-Feysot Christine,Nitschke Patrick,Handford Penny,Casanova Jean-Laurent,Boileau Catherine,Apte Suneel S.,Munnich Arnold,Cormier-Daire Valérie

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Geleophysic dwarfism—a “focal” mucopolysaccharidosis?;Spranger;Lancet,1971

2. Acromicric dysplasia;Maroteaux;Am. J. Med. Genet.,1986

3. Acromicric dysplasia: Long term outcome and evidence of autosomal dominant inheritance;Faivre;J. Med. Genet.,2001

4. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation;Le Goff;Nat. Genet.,2008

5. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia;Allali;J. Med. Genet.,2011

Cited by 191 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Geleophysic dysplasia and Weill–Marchesani syndrome: ADAMTSL2 a possible common gene;Ophthalmic Genetics;2024-07-24

2. Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review;Frontiers in Pediatrics;2024-07-15

3. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023);American Journal of Medical Genetics Part A;2024-05-23

4. Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome;Orphanet Journal of Rare Diseases;2024-05-21

5. Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome;Journal of Medical Genetics;2024-03-08