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Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations
CONTEXT: Congenital generalized lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder caused by mutations in caveolae-associated protein 1. Patients with CGL4 also have myopathy and cardiomyopathy with a predisposition for sudden death due to ventricular arrhythmias. However, the under...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Clin Endocrinol Metab |
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| Κύριοι συγγραφείς: | , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Endocrine Society
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6364506/ https://ncbi.nlm.nih.gov/pubmed/30476128 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-01331 |
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