Article
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.
American journal of medical genetics. Part A - 1 Jul 2020
Lacassie Yves, Johnson Britt, Lay-Son Guillermo, Quintana Rita, King Andrew, Cortes Fanny, Alvarez Cecilia, Gomez Ricardo, Vargas Alfonso, Chalew Stuart, King Alejandra, Guardia Sylvia, Sorensen Ricardo U, Aradhya Swaroop
Abstract excerpt
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 by severe postnatal growth retardation, senile facial appearance, small hands and feet, optic atrophy with loss of visual acuity and color vision, and normal intelligence (OMIM #614800). The presence of Pelger-Hüet...
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