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View article: Anemia and thrombocytopenia due to a novel <scp><i>BRPF1</i></scp> variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature
Anemia and thrombocytopenia due to a novel <span><i>BRPF1</i></span> variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature Open
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 facial features du…
View article: Evaluating of colchicine use patterns and attack frequency of <scp>familial Mediterranean fever</scp> patients in the <scp>COVID</scp>‐19 pandemic
Evaluating of colchicine use patterns and attack frequency of <span>familial Mediterranean fever</span> patients in the <span>COVID</span>‐19 pandemic Open
Familial Mediterranean Fever (FMF) is an autosomal recessive and dominant inherited disease and is the most common autoinflamma-tory disease characterized by recurrent episodes of fever, arthritis, and polyserositis.1Colchicine is the main…
View article: Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method
Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method Open
The oligophrenin-1 (OPHN1) gene is localized in the Xq12 region and it encodes the rho-GTPase-activating protein which spans 500 kb in size and consists of 25 exons. Gene plays crucial role in synaptic function and dendritic morphogenesis.…
View article: A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation
A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation Open
The chromosome 10q22.3q23.2 deletion syndrome is characterized by craniofacial dysmorphic features, developmental delay, congenital heart defect, and hand/foot abnormalities. In this study, we report a patient carrying a microdeletion of 7…