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...

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Xehetasun bibliografikoak
Argitaratua izan da:Pediatr Neurol
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Article
Sarrera elektronikoa: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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