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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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| Glavni autori: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The Endocrine Society
2009
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| Teme: | |
| Online pristup: | 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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