共 4 条
- [1] Congenital generalized lipodystrophy type 4-New mutation in the CAVIN1 gene HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 303 - 304
- [2] Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022, 35 (07): : 946 - 952
- [3] Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2019, 104 (03): : 957 - 960
- [4] A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature FRONTIERS IN ENDOCRINOLOGY, 2023, 14