Novel Homozygous Mutation in the AGPAT2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome

Novel Homozygous Mutation in the AGPAT2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome

Berardinelli-Seip congenital lipodystrophy (BSCL) is an autosomal recessive disorder, characterized by the generalized absence of subcutaneous fat and muscular hypertrophy. Meanwhile other signs and symptoms have already been reported with this genetic disorder. Herein, we report an infant with BSC...

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Bibliographic Details
Main Authors: Ahya Zaridoust, Ali Rabbani, Sima Hosseinverdi, Pascale Hilbert, Nima Rezaei
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2018-04-01
Series:Acta Medica Iranica
Subjects:
Berardinelli-Seip syndrome
Congenital lipodystrophy
Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/6058

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