Article
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
Journal of human genetics - 1 Jul 2021
Bilal Shamsi Monis, Saleh Mohamed, Almuntashri Makki, Alharby Essa, Samman Manar, Peake Roy W A, Al-Fadhli Fatima M, Alasmari Ali, Faqeih Eissa A, Almontashiri Naif A M
Abstract excerpt
Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of SLC12A2 disease has yet to be characterized and confirmed. Using whole-exome sequencing, we detected a homozygous...
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