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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472/
https://www.ncbi.nlm.nih.gov/pubmed/30791930
http://dx.doi.org/10.1186/s13023-019-1023-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472/
https://www.ncbi.nlm.nih.gov/pubmed/30791930
http://dx.doi.org/10.1186/s13023-019-1023-7

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