Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
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DOI: 10.1111/cge.13162
Abstract: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. It is caused by mutations in the NALCN gene that encodes… read more here.
Keywords: novel nalcn; ihprf1 syndrome; biallelic truncating; mutations nalcn ... See more keywords