Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia
Author:
Publisher
Informa UK Limited
Subject
Pharmacology,Molecular Medicine
Reference27 articles.
1. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis
2. Primary ciliary dyskinesia in the genomics age
3. Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis
4. Motile ciliopathies
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1. Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis;Orphanet Journal of Rare Diseases;2024-08-23
2. A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review;Frontiers in Genetics;2024-05-16
3. Primary ciliary dyskinesia in Egypt: First report of cilia ultrastructural defects and novel genetic variants;Pediatric Pulmonology;2024-04-18
4. A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review;Molecular Genetics & Genomic Medicine;2023-07-19
5. Laparoscopic bladder diverticulectomy in a child with situs inversus totalis: A case report and literature review;Frontiers in Surgery;2022-10-14
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