Web11 de abr. de 2024 · HIGHLIGHTS. who: HIDEA syndrome and colleagues from the Giannina Gaslini Institute (IRCCS), Italy The University of Iowa, United States have published the research: HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome, in the Journal: (JOURNAL) what: The authors report here, for the … Web20 de jul. de 2024 · European Journal of Human Genetics - Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I …
Biallelic P4HTM variants associated with HIDEA syndrome and
WebA new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase (TKT), transmembrane prolyl 4 … WebPurpose: A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis … granger clinic st marks
Frontiers HIDEA syndrome: A new case report highlighting …
Web23 de set. de 2024 · Recently, the genetic cause of HIDEA syndrome (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities) was identified as biallelic pathogenic variants in P4HTM, which encodes an atypical member of the prolyl 4-hydroxylases (P4Hs) family of enzymes.We report seven patients from four … WebBiallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) Article Full-text available Web1 de jan. de 2001 · A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase ( TKT ), … granger collection