Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

BACKGROUND: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability. RESULTS: Th...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Power, Bradley, Ferreira, Carlos R., Chen, Dong, Zein, Wadih M., O’Brien, Kevin J., Introne, Wendy J., Stephen, Joshi, Gahl, William A., Huizing, Marjan, Malicdan, May Christine V., Adams, David R., Gochuico, Bernadette R.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6385472/
https://ncbi.nlm.nih.gov/pubmed/30791930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1023-7
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