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 BSCL...
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| Format: | Artigo |
| Sprache: | Inglês |
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Tehran University of Medical Sciences
2018-04-01
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| Schriftenreihe: | Acta Medica Iranica |
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| Online-Zugang: | https://acta.tums.ac.ir/index.php/acta/article/view/6058 |
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