Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation

Hutchinson–Gilford progeria is a rare genetic disorder resulting from mutations in the LMNA gene encoding lamin A/C. In addition to the classical phenotype usually caused by the 1824C>T mutation of LMNA, a number of atypical progeroid syndromes have been described. They have some distinct feature...

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Veröffentlicht in:American journal of medical genetics. Part A 2009-11, Vol.149A (11), p.2387-2392
Hauptverfasser: Madej-Pilarczyk, Agnieszka, Rosińska-Borkowska, Danuta, Rękawek, Joanna, Marchel, Michał, Szaluś, Ewa, Jabłońska, Stefania, Hausmanowa-Petrusewicz, Irena
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Sprache:eng
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