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Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature.
Tahata S, Gunderson L, Lanpher B, Morava E. Tahata S, et al. Mol Genet Metab. 2019 Dec;128(4):409-414. doi: 10.1016/j.ymgme.2019.08.007. Epub 2019 Aug 26. Mol Genet Metab. 2019. PMID: 31481313 Review.
ALG12-congenital disorder of glycosylation (ALG12-CDG) is a rare disorder caused by a deficiency of dolichol-P-mannose:Man(7)GlcNAc(2)-PP-dolichyl-alpha-6-mannosyltransferase which presents with intellectual disability, hypotonia, dysmorphic fea …
ALG12-congenital disorder of glycosylation (ALG12-CDG) is a rare disorder caused by a deficiency of dolic …
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA. Scott TM, et al. J Med Genet. 2022 Mar;59(3):270-278. doi: 10.1136/jmedgenet-2020-107317. Epub 2021 Jan 18. J Med Genet. 2022. PMID: 33461977 Free PMC article.
Our results also provide evidence in favour of phenotypic expansions involving CDH for genes associated with ALG12-congenital disorder of glycosylation, Rubinstein-Taybi syndrome, Fanconi anaemia, Coffin-Siris syndrome and FOXP1-related disorder …
Our results also provide evidence in favour of phenotypic expansions involving CDH for genes associated with ALG12-congenital …