Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C

The clinical course of a female patient affected by a progeroid syndrome with Restrictive Dermopathy (RD)-like features was followed up. Besides missing hairiness, stagnating weight and growth, RD-like features including progressive skin swelling and solidification, acrocontractures, osteolysis and...

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Detalles Bibliográficos
Autores principales: Starke, Sven, Meinke, Peter, Camozzi, Daria, Mattioli, Elisabetta, Pfaeffle, Roland, Siekmeyer, Manuela, Hirsch, Wolfgang, Horn, Lars Christian, Paasch, Uwe, Mitter, Diana, Lattanzi, Giovanna, Wehnert, Manfred, Kiess, Wieland
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2013
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824411/
https://www.ncbi.nlm.nih.gov/pubmed/23804595

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