title: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population.
authors.forename: C
authors.initials: C
authors.lastname: Criscuolo
authors.forename: A
authors.initials: A
authors.lastname: Guacci
authors.forename: R
authors.initials: R
authors.lastname: Carbone
authors.forename: M
authors.initials: M
authors.lastname: Lieto
authors.forename: E
authors.initials: E
authors.lastname: Salsano
authors.forename: L
authors.initials: L
authors.lastname: Nanetti
authors.forename: G D
authors.initials: GD
authors.lastname: Michele
authors.forename: A
authors.initials: A
authors.lastname: Filla
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001259:Ataxia / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D008994:Monoacylglycerol Lipases / Q000235:genetics*; D009154:Mutation; D011115:Polyneuropathies / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult
chemical_list: C552558:ABHD12 protein, human; D008994:Monoacylglycerol Lipases