Article
Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
The Journal of clinical endocrinology and metabolism - 1 Dec 2009
Garg Abhimanyu, Subramanyam Lalitha, Agarwal Anil K, Simha Vinaya, Levine Benjamin, D'Apice Maria Rosaria, Novelli Giuseppe, Crow Yanick
Abstract excerpt
CONTEXT: Hutchinson-Gilford progeria syndrome (HGPS) and mandibuloacral dysplasia are well-recognized allelic autosomal dominant and recessive progeroid disorders, respectively, due to mutations in lamin A/C (LMNA) gene. Heterozygous LMNA mutations have also been reported in a small number of patients with a less well-characterized atypical progeroid syndrome (APS). OBJECTIVE: The objective of the study was to...
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