Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.
Lagier-Tourenne
C
C
Chaigne
D
D
Gong
J
J
Flori
J
J
Mohr
M
M
Ruh
D
D
Christmann
D
D
Flament
J
J
Mandel
J-L
JL
Koenig
M
M
Dollfus
H
H
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