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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Endocrinol Diabetes Metab Case Rep
Glavni autori: Yukina, Marina, Nuralieva, Nurana, Sorkina, Ekaterina, Troshina, Ekaterina, Tiulpakov, Anatoly, Belaya, Zhanna, Melnichenko, Galina
Format: Artigo
Jezik:Inglês
Izdano: Bioscientifica Ltd 2021
Teme:
Unique/Unexpected Symptoms or Presentations of a Disease
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items