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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Detalhes bibliográficos
Publicado no:Endocrinol Diabetes Metab Case Rep
Main Authors: Yukina, Marina, Nuralieva, Nurana, Sorkina, Ekaterina, Troshina, Ekaterina, Tiulpakov, Anatoly, Belaya, Zhanna, Melnichenko, Galina
Formato: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2021
Assuntos:
Unique/Unexpected Symptoms or Presentations of a Disease
Acesso em linha: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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