Sven Starke, Peter Meinke, Daria Camozzi, Elisabetta Mattioli, Roland Pfaeffle, Manuela Siekmeyer, Wolfgang Hirsch, Lars Christian Horn, Uwe Paasch, Diana Mitter, Giovanna Lattanzi, Manfred Wehnert, Wieland Kiess
Abstract: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 muscular hypotension were observed until the patient died at the age of 11 months. A homozygous LMNA mutation c.1303C>T (p.R435C) was found by Sanger sequencing. Haplotyping revealed a partial uniparental disomy of …
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