Literature summary for 2.4.1.261 extracted from

Davis, K.; Webster, D.; Smith, C.; Jackson, S.; Sinasac, D.; Seargeant, L.; Wei, X.; Ferreira, P.; Midgley, J.; Foster, Y.; Li, X.; He, M.; Al-Hertani, W.
ALG9-CDG New clinical case and review of the literature (2017), Mol. Genet. Metab. Rep., 13, 55-63 .

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Application

Application	Comment	Organism
medicine	in a patient with homozygous mutation in ALG9, c.860A > G, i.e. Y287C, prenatally, dysmorphic features, numerous renal cysts and minor cardiac malformations were detected. Postnatally, dysmorphic features include shallow orbits, micrognathia, hypoplastic nipples, talipes equinovarus, lipodystrophy and cutis marmorata	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9H6U8	-	-

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Release 2023.1 (January 2023)