Ontology highlight
ABSTRACT:
SUBMITTER: LaCroix AJ
PROVIDER: S-EPMC6323552 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
LaCroix Amy J AJ Stabley Deborah D Sahraoui Rebecca R Adam Margaret P MP Mehaffey Michele M Kernan Kelly K Myers Candace T CT Fagerstrom Carrie C Anadiotis George G Akkari Yassmine M YM Robbins Katherine M KM Gripp Karen W KW Baratela Wagner A R WAR Bober Michael B MB Duker Angela L AL Doherty Dan D Dempsey Jennifer C JC Miller Daniel G DG Kircher Martin M Bamshad Michael J MJ Nickerson Deborah A DA Mefford Heather C HC Sol-Church Katia K
American journal of human genetics 20181213 1
Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular investigation of 10 families (12 individuals) with BSS. Standard sequencing methods identified biallelic pathogenic variants in XYLT1 in only two families. Of the remaining cohort, two probands had no variants and six probands had only a single variant, includ ...[more]