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Article

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.

The Journal of dermatology - 1 Feb 2020

Nishikawa Takuro, Okamura Ken, Moriyama Mizuki, Watanabe Kenji, Ibusuki Atsuko, Sameshima Seiji, Masamoto Izumi, Yamazaki Ieharu, Tanita Kay, Kanekura Takuro, Kanegane Hirokazu, Suzuki Tamio, Kawano Yoshifumi

Abstract excerpt

Hermansky-Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding diathesis due to a storage pool deficiency and immunodeficiency. The disorder is caused by disruption of the adapter protein 3 complex, which is involved in impaired intracellular vesicle transport. Here, we report the first case of a 1-year-old girl...

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PMID: 31820501
DOI: 10.1111/1346-8138.15177

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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