Hermansky-Pudlak Syndrome.
Introne WJ, Huizing M, Malicdan MCV, O'Brien KJ, Gahl WA.
Introne WJ, et al.
2000 Jul 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2000 Jul 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301464
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Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1. DIAGNOSIS/TESTING: The clinical diagnosis of HPS can be established in a proband with hypopigmentation of the skin and hair, characteristic eye findings, and demon …
Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1. DIAGNOSIS/TESTING: The …