title: Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5.
authors.affiliation: aClinical Genetics, St Michaels Hospital, Bristol bBristol Genetics Laboratory Pathology Sciences, Southmead Hospital Bristol, UK.
authors.forename: Karen J
authors.initials: KJ
authors.lastname: Low
authors.forename: Chris C
authors.initials: CC
authors.lastname: Buxton
authors.forename: Ruth A
authors.initials: RA
authors.lastname: Newbury-Ecob
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D059327:Brachydactyly / Q000235:genetics; D002892:Chromosomes, Human, Pair 22; D004392:Dwarfism / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D053673:Glypicans / Q000235:genetics; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D035683:MicroRNAs / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D022661:RNA, Untranslated / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000235:genetics*
chemical_list: C106228:GPC5 protein, human; D053673:Glypicans; C524941:MIRN17 microRNA, human; D035683:MicroRNAs; D022661:RNA, Untranslated