Article
Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation.
The Journal of clinical endocrinology and metabolism - 1 Dec 2005
Jacob Katherine N, Baptista Fernando, dos Santos Heloísa G, Oshima Junko, Agarwal Anil K, Garg Abhimanyu
Abstract excerpt
CONTEXT: 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. OBJECTIVE: The objective of the study was to carry out detailed phenotyping of these two women by evaluating the pattern of fat loss using anthropometry, dual-energy...
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