期刊
EUROPEAN JOURNAL OF CLINICAL NUTRITION
卷 76, 期 7, 页码 1041-1043出版社
SPRINGERNATURE
DOI: 10.1038/s41430-022-01072-y
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资金
- Kunming municipal government spring city famous doctor special project [2020-23]
- Kunming Science and technology planning project [2019-1-S-25318000001139]
- Kunming health and Family Planning Commission Project [2019-SW-33]
- Yunnan Province's reserve medical talents project [H-2019002]
- Kunming Medical University Applied Basic Research Joint Special Project [202001AY070001-170]
- Kunming Spring City Plan high-level talent training project
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease with a very low prevalence. While around 500 similar cases have been reported in the literature, no types of CGL with NOTCH2 gene mutation have been described.
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease with a prevalence of less than one in ten million. To our knowledge, similar to 500 cases, including 95% of BSCL2, have been reported in the literatures, but no types of CGL with NOTCH2 gene mutation has been described.
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