Phelan–McDermid Syndrome: Expanding the Phenotype

Clinical and Molecular Genetic Characterization of Waardenburg Syndrome

GORLIN GOLTZ SYNDROME: A CASE REPORT

Recurrent CPLANE1 splice site variant in Oro-facial-digital syndrome OFD VI

A rare mutation in an Egyptian family with Sanfilippo B syndrome

CONGENITAL HYPERTROPHY OF RETINAL PIGMENT EPITHELIUM (CHRPE) WITH TYPICAL ‘BEAR TRACK’ PRESENTATION

Autism spectrum disorder and achondroplasia in an Egyptian patient

Orodental abnormalities in limb malformation syndromes: A review article

Describing the Phenotypic Spectrum of Sturge Weber Syndrome in a Cohort of Children Attending the Neurology Clinic at a Tertiary Care Center

ADELOYE-ODEKU DISEASE IN ASSER REGION OF SAUDI ARABIA