Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000407
Abstract: Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including homocystinuria. This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria caused by biallelic variants in… read more here.
Keywords: homocystinuria caused; neurological phenotypes; variable neurological; methylenetetrahydrofolate reductase ... See more keywords
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein
Sign Up to like & getrecommendations! 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… read more here.
Keywords: p4htm variants; hidea syndrome; caused biallelic; syndrome caused ... See more keywords