Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR.
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PMID: 30369044
Free PMC article.