https://www.selleckchem.com/pr....oducts/pf-477736.htm
Pathogenic variants in are associated with -related intellectual disability syndrome (DIDS). Common features of this diagnosis include microcephaly, intellectual disability, speech impairment, and distinct facial features. Reported ocular features include deep-set eyes, myopia, and strabismus. We present a case of -related intellectual disability syndrome with ocular findings of albinism and explore the possible pathogenesis of this previously unreported manifestation. This is a single, retrospective case report of a child with DIDS w
إعجاب
علق
شارك
