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Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction

BACKGROUND: Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF genes define I-IV subtype of BSLC respectively and clinical data indicate t...

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Detalles Bibliográficos
Autores principales:	Ren, Meng, Shi, Jingru, Jia, Jinmeng, Guo, Yongli, Ni, Xin, Shi, Tieliu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7191718/ https://www.ncbi.nlm.nih.gov/pubmed/32349771 http://dx.doi.org/10.1186/s13023-020-01383-y

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