Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

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 patien...

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Hlavní autoři: Garg, Abhimanyu, Subramanyam, Lalitha, Agarwal, Anil K., Simha, Vinaya, Levine, Benjamin, D'Apice, Maria Rosaria, Novelli, Giuseppe, Crow, Yanick
Médium: Artigo
Jazyk:Inglês
Vydáno: The Endocrine Society 2009
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2795646/
https://ncbi.nlm.nih.gov/pubmed/19875478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-0472
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