Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00438-023-02025-1.pdf
Reference57 articles.
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2. Albuquerque D, Estévez MN, Víbora PB et al (2014) Novel variants in the MC4R and LEPR genes among severely obese children from the Iberian population. Ann Hum Genet 78(3):195–207. https://doi.org/10.1111/ahg.12058
3. Algariri N, Alhabib M, Alsaheel A (2017) A novel mutation leading to leptin receptor deficiency and subsequent childhood morbid obesity. J Endocrinol Diab 4(4):1–2. https://doi.org/10.15226/2374-6890/4/4/00187
4. Andiran N, Celik N, Andiran F (2011) Homozygosity for two missense mutations in the leptin receptor gene (P316:W646C) in a Turkmenian girl with severe early-onset obesity. J Pediatr Endocrinol Metab 24(11–12):1043–1045. https://doi.org/10.1515/JPEM.2011.313
5. Armağan C, Yılmaz C, Koç A et al (2019) A toddler with a novel LEPR mutation. Hormones (athens) 18(2):237–240. https://doi.org/10.1007/s42000-019-00097-6
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