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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
2020
Journal of Clinical Endocrinology and Metabolism
4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. An international cross-sectional study was performed
doi:10.1210/clinem/dgaa700
pmid:33005949
pmcid:PMC7823228
fatcat:jkuq66nrc5bxxoumrmxijdtzhe