Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

Author:

Sampaolo Simone,Napolitano Filomena,Tirozzi Alfonsina,Reccia Mafalda Giovanna,Lombardi Luca,Farina Olimpia,Barra Adriano,Cirillo Ferdinando,Melone Mariarosa Anna Beatrice,Gianfrancesco Fernando,Iorio Giuseppe Di,Esposito TeresaORCID

Funder

Associazione Italiana per la Ricerca sul Cancro

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference36 articles.

1. The extracellular matrix: not just pretty fibrils;Hynes;Science,2009

2. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria;Symoens;Hum Mutat,2012

3. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development;Urban;Am J Hum Genet,2009

4. Laminins and their roles in mammals;Miner;Microsc Res Tech,2008

5. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review;Jones;J Med Genet,2001

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