Kategorie:
PubID
Gen
MIM
ACBD5
23356391 The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
ADAMTS18
AIPL1
26047050 Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
ALMS1
BBS2
BBS4
CABP4
ARVO Abstract Novel compound heterozygous mutations of Leber congenital amaurosis in CCT2
CCT2
16909394 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
CEP290
26165328 Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.
CRB1
CRX
24737827 A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
DHX38
23105016 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
DTHD1
GDF6
GUCY2D
26216056 Hum Genet. 2015: Non-syndromic retinal degeneration
IFT140
16384941 Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
IMPDH1
IQCB1
27203561 LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.
KCNJ13
21488265 Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis.
LCA5
22570351 Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
LRAT
MERTK
21862650 Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
MPDZ
MYO7A
26464178 Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
NMNAT1
OTX2
POC1B
24904271 Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.
RD3
25148430 Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
RDH12
26626312 Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
RPE65
RPGRIP1
21310915 Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
SPATA7
10440267 Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
TULP1