Open AccessPhenotypic Heterogeneity in Body Fat Distribution in Patients with Atypical Werner’s Syndrome Due to Heterozygous Arg133Leu Lamin A/C Mutation
Author(s) -
Katherine N. Jacob,
Fernando Baptista,
Heloísa G. dos Santos,
Junko Oshima,
Anil K. Agarwal,
Abhimanyu Garg
Publication year - 2005
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2005-0939
Subject(s) - missense mutation , lamin , genetics , mutation , phenotype , context (archaeology) , arginine , short stature , biology , heterozygote advantage , endocrinology , genotype , gene , amino acid , paleontology
A heterozygous missense mutation substituting arginine at position 133 to leucine in the lamin A/C protein has been reported in two young women with clinical features of short stature, bird-like faces, and early onset of aging processes.
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