title: Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.
authors.forename: C
authors.initials: C
authors.lastname: Lagier-Tourenne
authors.forename: D
authors.initials: D
authors.lastname: Chaigne
authors.forename: J
authors.initials: J
authors.lastname: Gong
authors.forename: J
authors.initials: J
authors.lastname: Flori
authors.forename: M
authors.initials: M
authors.lastname: Mohr
authors.forename: D
authors.initials: D
authors.lastname: Ruh
authors.forename: D
authors.initials: D
authors.lastname: Christmann
authors.forename: J
authors.initials: J
authors.lastname: Flament
authors.forename: J-L
authors.initials: JL
authors.lastname: Mandel
authors.forename: M
authors.initials: M
authors.lastname: Koenig
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000473:pathology; D002386:Cataract / Q000151:congenital; D002648:Child; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009422:Nervous System Diseases / Q000473:pathology; D010375:Pedigree; D011596:Psychomotor Disorders / Q000473:pathology; D013577:Syndrome