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Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis
SUMMARY: Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson–Gilford progeria syndrome, mandibuloacral dysplasia, atypical progeroid syndrome (APS) and generalized lipodystrophy-associated progeroid syndrome (GLPS). All of those syndromes are asso...
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| 出版年: | Endocrinol Diabetes Metab Case Rep |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Bioscientifica Ltd
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8052577/ https://ncbi.nlm.nih.gov/pubmed/33859056 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0188 |
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