A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

BACKGROUND: Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson–Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). Five of the 31 previously reported patients with APS harbored a recurrent de novo heterozyg...

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Vydáno v:J Clin Endocrinol Metab
Hlavní autoři: Hussain, Iram, Patni, Nivedita, Ueda, Masako, Sorkina, Ekaterina, Valerio, Cynthia M, Cochran, Elaine, Brown, Rebecca J, Peeden, Joseph, Tikhonovich, Yulia, Tiulpakov, Anatoly, Stender, Sarah R S, Klouda, Elisabeth, Tayeh, Marwan K, Innis, Jeffrey W, Meyer, Anders, Lal, Priti, Godoy-Matos, Amelio F, Teles, Milena G, Adams-Huet, Beverley, Rader, Daniel J, Hegele, Robert A, Oral, Elif A, Garg, Abhimanyu
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2017
Témata:
Clinical Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6283411/
https://ncbi.nlm.nih.gov/pubmed/29267953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2017-02078
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