PMID- 10439962
OWN - NLM
STAT- MEDLINE
DCOM- 19991019
LR  - 20151119
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 5
DP  - 1999 Jul
TI  - Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel
      developmental disorder in Gypsies maps to 18qter.
PG  - 560-6
AB  - We have identified a novel developmental disorder with complex phenotypic
      characteristics involving primarily the nervous system, which appears to be
      common in a specific Gypsy group in Bulgaria. We propose to refer to the syndrome
      as congenital cataracts facial dysmorphism neuropathy (CCFDN). We have assigned
      the disease locus to the telomeric region of chromosome 18q. Linkage
      disequilibrium and highly conserved haplotypes suggest genetic homogeneity and
      founder effect. CCFDN co-localises with an EST which shows high homology to a
      conserved Drosophila gene involved in the regulation of nervous system
      development in vertebrates.
FAU - Angelicheva, D
AU  - Angelicheva D
AD  - Centre for Human Genetics, Edith Cowan University, Perth, Australia.
FAU - Turnev, I
AU  - Turnev I
FAU - Dye, D
AU  - Dye D
FAU - Chandler, D
AU  - Chandler D
FAU - Thomas, P K
AU  - Thomas PK
FAU - Kalaydjieva, L
AU  - Kalaydjieva L
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Cataract/*congenital/genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 18
MH  - Face/*abnormalities
MH  - Female
MH  - Founder Effect
MH  - Genetic Heterogeneity
MH  - Humans
MH  - Infant
MH  - Linkage Disequilibrium
MH  - Male
MH  - Nervous System Diseases/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - Roma
MH  - Syndrome
EDAT- 1999/08/10 00:00
MHDA- 1999/08/10 00:01
CRDT- 1999/08/10 00:00
PHST- 1999/08/10 00:00 [pubmed]
PHST- 1999/08/10 00:01 [medline]
PHST- 1999/08/10 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200319 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Jul;7(5):560-6. doi: 10.1038/sj.ejhg.5200319.