Article
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.
American journal of medical genetics. Part A - 1 Nov 2015
Lepais Laureline, Cheillan David, Frachon Sophie Collardeau, Hays Stéphane, Matthijs Gert, Panagiotakaki Eleni, Abel Carine, Edery Patrick, Rossi Massimiliano
Abstract excerpt
Congenital disorders of glycosylation (CDG) are a group of inborn errors of metabolism presenting with heterogeneous multisystemic clinical manifestations. To date, more than 60 different types of CDG have been reported. ALG3-CDG is very rare, with only nine patients described so far. We report two affected siblings presenting prenatally with skeletal abnormalities associated with dysmorphic features, cerebellar...
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