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Accommodative insufficiency in a patient with Prader–Willi syndrome and SNRPN gene mutation

Accommodative insufficiency (AI) is common in children, however, has not been described in Prader–Willi syndrome (PWS). This case report presents severe AI in a child with PWS and a rare mutation on chromosome 15 (methylation at locus SNRPN). A 15-year-old boy with PWS presented with the complaint a...

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Detalles Bibliográficos
Autor principal: Kanclerz, Piotr
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7849860/
https://www.ncbi.nlm.nih.gov/pubmed/33542990
http://dx.doi.org/10.4103/1319-4534.301291