Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

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Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman—Review of this pleiotropic, autosomal recessive disorder Mystery solved after two decades.pdf (1.82 MB)

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2020

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Article

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Artículos Medicina y Ciencias de la Salud

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https://doi.org/10.1002/ajmg.a.61597.
 http://hdl.handle.net/11447/4957

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Abstract

Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized b...

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Citation

Am J Med Genet A . 2020 Jul;182(7):1767-1775

Keywords

SOPH syndrome , Combined immunodeficiency , Diabetes mellitus , Dwarfism and osteolysis , Long survival , Novel NBAS variant

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