期刊： CLINICAL GENETICS, 2022; 102 (2)
The pathogenic variants in KCNQ4 cause DFNA2 nonsyndromic hearing loss. However, the understanding of genotype-phenotype correlations between KCNQ4 an......
期刊： CLINICAL GENETICS, 2022; 101 (4)
Neural tube defects (NTDs) are the most severe birth defects and the main cause of newborn death; posing a great challenge to the affected children, f......
期刊： CLINICAL GENETICS, 2022; 101 (4)
AGO1, as one of the rare genes in neurodevelopmental disorders, is involved in the microRNA-induced silencing complex. Here, we describe the clinical ......
期刊： CLINICAL GENETICS, 2022; 102 (6)
Hereditary spherocytosis (HS) is a prevalent inherited hemolytic disorder primarily reported in Caucasians. Recently, next-generation sequencing (NGS)......
期刊： CLINICAL GENETICS, 2022; 102 (6)
Diamond-Blackfan anaemia (DBA) is an inherited marrow failure disorder characterised by selective erythroid aplasia. Herein, we reported a case of DBA......
期刊： CLINICAL GENETICS, 2022; 101 (4)
Retinol dehydrogenase 11 (RDH11) is an 11-cis-retinol dehydrogenase that has a well-characterized, albeit auxiliary role in the retinoid cycle. Diseas......
期刊： CLINICAL GENETICS, 2022; 101 (1)
Emerging evidence demonstrates the clinical utility of genomic applications in newborn intensive care unit (NICU) patients with strong indications of ......
期刊： CLINICAL GENETICS, 2022; 101 (5-6)
The genetic causes of idiopathic premature ovarian insufficiency (POI) and nonobstructive azoospermia (NOA) remain unclear. We performed whole-exome s......
期刊： CLINICAL GENETICS, 2022; 102 (5)
High myopia is one of the most common causes for blindness due to its associated complications. Genetic factor has been considered as the major cause ......
期刊： CLINICAL GENETICS, 2022; 102 (4)
Limb-Girdle muscular dystrophy (LGMD) is a group of muscle disorders with highly heterogeneous genetic patterns and clinical phenotypes, and this grou......
期刊： CLINICAL GENETICS, 2022; 102 (6)
Tooth agenesis is a high genetic heterogeneous disorder with more than 80 genes identified as associated molecular causes. The present study aimed to ......
期刊： CLINICAL GENETICS, 2022; 102 (3)
Hypokalemia is a common disorder in clinical settings; however, nonmolecular diagnostic testing cannot explain some causes of hypokalemia. To determin......
期刊： CLINICAL GENETICS, 2022; 102 (5)
Split hand/foot malformation (SHFM) is a clinically heterogeneous genetic disorder, which is mainly characterized by median clefts of the hand/feet du......
