Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11684-021-0860-7.pdf
Reference13 articles.
1. Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers 2017; 3 (1): 17004
2. Alves Júnior SF, Zanetti G, Alves de Melo AS, Souza AS Jr, Souza LS, de Souza Portes Meirelles G, Irion KL, Hochhegger B, Marchiori E. Neurofibromatosis type 1: state-of-the-art review with emphasis on pulmonary involvement. Respir Med 2019; 149: 9–15
3. Cimino PJ, Gutmann DH. Neurofibromatosis type 1. Handb Clin Neurol 2018; 148: 799–811
4. Zamora AC, Collard HR, Wolters PJ, Webb WR, King TE. Neurofibromatosis-associated lung disease: a case series and literature review. Eur Respir J 2007; 29(1): 210–214
5. Mirra V, Werner C, Santamaria F. Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies. Front Pediatr 2017; 5: 135
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1. A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review;Frontiers in Genetics;2024-05-16
2. The RSPH4A Gene in Primary Ciliary Dyskinesia;International Journal of Molecular Sciences;2023-01-18
3. Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families;Frontiers in Genetics;2022-06-22
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