Unusual case of polycystic ovary syndrome (PCOS) and gestational diabetes as a result of familial partial lipodystrophy type 2 (FPLD2) due to heterozygous missense mutation R482W in LMNA gene, described for the first time in Russian population
Autor: | Galina A. Melnichenko, M Kalashnikova, F Burumkulova, A Tiulpakov, V Petrukhin, E Sorkina |
---|---|
Rok vydání: | 2014 |
Předmět: |
medicine.medical_specialty
Unusual case Endocrinology Diabetes and Metabolism Familial partial lipodystrophy type 2 Polycystic ovary syndrome (PCOS) General Medicine Biology medicine.disease Gestational diabetes LMNA Endocrinology Internal medicine Internal Medicine medicine Russian population Missense mutation Gene |
Zdroj: | Experimental and Clinical Endocrinology & Diabetes. 122 |
ISSN: | 1439-3646 0947-7349 |
DOI: | 10.1055/s-0034-1372315 |
Databáze: | OpenAIRE |
Externí odkaz: |