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Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14203
Abstract: HIDEA syndrome is caused by biallelic pathogenic variants in P4HTM. The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive and central sleep apneas, intellectual disability, dysautonomia, epilepsy, eye abnormalities, and an increased…
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Keywords:
p4htm variants;
hidea syndrome;
caused biallelic;
syndrome caused ... See more keywords