Hoyeraal-Hreidarsson Syndrome Due to PARN Mutations: Fourteen Years of Follow-up

INTRODUCTION: Hoyeraal-Hreidarsson syndrome is a dyskeratosis congenita-related telomere biology disorder that presents in infancy with intrauterine growth retardation immunodeficiency, and cerebellar hypoplasia in addition to the triad of nail dysplasia, skin pigmentation, and oral leukoplakia. Pat...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Pediatr Neurol
Prif Awduron: Burris, Ashley M., Ballew, Bari J., Kentosh, Joshua B., Turner, Clesson E., Norton, Scott A., Giri, Neelam, Alter, Blanche P., Nellan, Anandani, Gamper, Christopher, Hartman, Kip R., Savage, Sharon A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2015
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4789174/
https://ncbi.nlm.nih.gov/pubmed/26810774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2015.12.005
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