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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...
Autores principales: | Xie, Bobo, Fan, Xin, Lei, Yaqin, Yi, Shang, Yang, Qi, Wang, Jin, Qin, Zailong, Shen, Fei, Luo, Jingsi, Shen, Yiping |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2020
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Materias: | |
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 |
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