Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy

Congenital generalized lipodystrophy (CGL) is a clinically and genetically heterogeneous condition with autosomal recessive inheritance. CGL is classified into four subtypes on the basis of causative genes. This study reported on a 2-month-old male infant diagnosed with CGL with generalized lipoatro...

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Detalles Bibliográficos
Autores principales: Xie, Bobo, Fan, Xin, Lei, Yaqin, Yi, Shang, Yang, Qi, Wang, Jin, Qin, Zailong, Shen, Fei, Luo, Jingsi, Shen, Yiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185175/
https://www.ncbi.nlm.nih.gov/pubmed/32236581
http://dx.doi.org/10.3892/mmr.2020.11036

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185175/
https://www.ncbi.nlm.nih.gov/pubmed/32236581
http://dx.doi.org/10.3892/mmr.2020.11036

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