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Article

Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.

American journal of medical genetics. Part A - 1 Oct 2021

Leoni Chiara, Tedesco Marta, Radio Francesca Clementina, Chillemi Giovanni, Leone Antonio, Bruselles Alessandro, Ciolfi Andrea, Stellacci Emilia, Pantaleoni Francesca, Butera Gianfranco, Rigante Donato, Onesimo Roberta, Tartaglia Marco, Zampino Giuseppe

Abstract excerpt

Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various clinical conditions, causing spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1 or SEMDJL Beighton type), Al-Gazali syndrome (ALGAZ), and a severe progeroid form of Ehlers-Danlos syndrome (EDSSPD2). In the 2017 Ehlers-Danlos syndrome (EDS)...

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PMID: 34159694
DOI: 10.1002/ajmg.a.62399

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