Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with
ACHM
CNGA3
achromatopsia
chromosome 2
uniparental isodisomy
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
22 Jul 2021
22 Jul 2021
Historique:
received:
16
06
2021
revised:
13
07
2021
accepted:
21
07
2021
entrez:
7
8
2021
pubmed:
8
8
2021
medline:
17
8
2021
Statut:
epublish
Résumé
Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutations in the genes
Identifiants
pubmed: 34360608
pii: ijms22157842
doi: 10.3390/ijms22157842
pmc: PMC8346044
pii:
doi:
Substances chimiques
CNGA3 protein, human
0
Cyclic Nucleotide-Gated Cation Channels
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Deutsche Forschungsgemeinschaft
ID : 39853967 (KO 2176/3-1)
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