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 |
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