Browsing by Author "Köse, Canan Ceylan"

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Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from canakkale with intellectual disability and dysmorphic facies: Case report and review of the literature

Köse, Canan Ceylan; Kaya, Derya; Akcan, Mehmet Berkay; Sılan, Fatma (John Wiley and Sons Inc, 2023)

Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) (MIM#617333) is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability (ID), and dysmorphic ...