Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

IMPORTANCE: Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present at birth. Pediatric clinical presentation and the course of different genetic subtypes of CSNB have not, to our knowledge, been well described in the era of molecular...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JAMA Ophthalmol
Prif Awduron: Miraldi Utz, Virginia, Pfeifer, Wanda, Longmuir, Susannah Q., Olson, Richard John, Wang, Kai, Drack, Arlene V.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Medical Association 2018
Pynciau:
Original Investigation
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5876850/
https://ncbi.nlm.nih.gov/pubmed/29522070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2018.0185
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