A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
about
Cone rod dystrophiesMutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfectaMutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfectaEvolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseasesA new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.Cone and cone-rod dystrophies.Psychosocial genetics: an emerging scientific discipline.Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.Amelogenesis imperfectaHomozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 geneNext-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition.Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.Intra-familial phenotype variability in patients with Jalili syndromeCone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta.Co-occurrence of Jalili syndrome and muscular overgrowth.A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.
P2860
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P2860
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
description
1988 nî lūn-bûn
@nan
1988 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@ast
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@en
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@en-gb
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@nl
type
label
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@ast
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@en
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@en-gb
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@nl
prefLabel
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@ast
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@en
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@en-gb
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@nl
P2860
P356
P1476
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
@en
P2093
P2860
P304
P356
10.1136/JMG.25.11.738
P407
P577
1988-11-01T00:00:00Z