Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.
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DOI: 10.29271/jcpsp.2022.02.236
Abstract: Kleefstra syndrome is a rare inherited neuro-developmental condition characterised by facial dysmorphism, microcephaly, hypotonia, developmental delay, and intellectual disability. It is a rare syndrome; and less than 100 cases with different genetic mutations are reported… read more here.
Keywords: syndrome; deafness; kleefstra syndrome; mutation ... See more keywords