Search Results - "Maden Bedel, Fayize"
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Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?
Published in Psychiatric genetics (01-06-2024)“…Intellectual disability is characterized by impairment in at least two of the following areas: social skills, communication skills, self-care tasks, and…”
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Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?
Published in European journal of medical genetics (01-04-2024)“…Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, dysmorphic facial features,…”
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Case of twin achondroplasia and autism coexistence and literature review
Published in Psychiatric genetics (01-12-2023)“…Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with chromosomal abnormalities such as Down…”
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