Chediak-higashi Syndrome
What's New
Last Posted: Mar 06, 2023
- [Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].
Zhao Jiangang, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 0 (2) 188-192 - [Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome].
Wang Conghui, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 0 (11) 1257-1261 - Treosulfan-Based Conditioning in Matched Family, Unrelated and Haploidentical Hematopoietic Stem Cell Transplantation for Genetic Hemophagocytic Lymphohistiocytosis: Experience and Outcomes over 10 Years from India.
Swaminathan Venkateswaran Vellaichamy, et al. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2022 0 (1) 84-91 - Chediak-Higashi syndrome
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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