A lethal form of ASCC3 disease: severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism and micropenis
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ASCC3 encodes a DNA helicase, pivotal in transcriptional regulation, DNA damage response, and ribosomal quality control. Biallelic ASCC3 variants have been recently associated with a wide spectrum of non-lethal neuromuscular and neurodevelopmental disorders, w... ...
