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Paper Details

Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Am J Med Genet A
3
2021
ALGAZ, Al-Gazali syndrome, B3GALT6, B4GALT7, Beta3GalT6, Beta3GalT6-related disorders, Beta3GalT6-related syndromes, EDS, Ehlers-Danlos syndrome, SEMDJL, SEMDJL1, SLC39A13, aortic dilation, dural ectasia, exomes, galactosyltransferase, joint laxity type 1, patient, patients, progeroid, spondylodysplastic EDSs, spondyloepimetaphyseal dysplasia
Author NameAffiliation
Francesca Clementina RadioOspedale Pediatrico Bambino Gesu IRCCS
Marco TartagliaOspedale Pediatrico Bambino Gesu IRCCS
Giuseppe ZampinoCenter for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS
Giuseppe ZampinoUniversita Cattolica del Sacro Cuore
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