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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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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Wolters Kluwer - Medknow
2020
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| 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 |