Novel gene mutations in Chédiak–Higashi syndrome with hyperpigmentation

Author:

Fukuchi Kensuke1ORCID,Tatsuno Kazuki1,Sakaguchi Kimiyoshi2ORCID,Sano Shinichiro3,Sasaki Takashi4,Aoki Satomi5,Kubo Akiharu5ORCID,Tokura Yoshiki1

Affiliation:

1. Department of DermatologyHamamatsu University School of MedicineHamamatsu Japan

2. Department of Pediatrics Hamamatsu University School of MedicineHamamatsu Japan

3. Division of Pediatrics Hamamatsu Medical Center HamamatsuJapan

4. Center for Supercentenarian Medical ResearchKeio University School of Medicine TokyoJapan

5. Department of Dermatology Keio University School of Medicine Tokyo Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Reference5 articles.

Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. New Progress in Molecular Genetics Research of Albinism;Journal of Contemporary Medical Practice;2024-08-21

2. Detección de inclusiones citoplasmáticas gigantes en un paciente pediátrico con infecciones recurrentes: a propósito de un caso;Advances in Laboratory Medicine / Avances en Medicina de Laboratorio;2024-02-14

3. Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report;Advances in Laboratory Medicine / Avances en Medicina de Laboratorio;2024-02-05

4. Spectrum ofLYSTmutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature;Journal of Medical Genetics;2023-10-03

5. Syndromes with Hypomelanosis;Atlas of Pigmentary Skin Disorders;2023

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