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Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Feb 2022

Matsuyuki Keigo, Ide Mizuki, Houjou Keishirou, Shima Saho, Tanaka Seiji, Watanabe Yoriko, Tomino Hiroyuki, Egashira Tomoko, Takayanagi Toshimitsu, Tashiro Katsuya, Okamura Ken, Suzuki Tamio, Miyamoto Takayuki, Shibata Hirofumi, Yasumi Takahiro, Nishikomori Ryuta

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PMID: 35212049
DOI: 10.1111/pai.13748

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Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease.PMID 35212049Read ↗

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Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.Semantic proximity Read ↗

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Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.Semantic proximity Read ↗

A case of U2AF2 -related developmental disorder: long-term follow-up and expansion of the phenotype.Semantic proximity Read ↗

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