共 50 条
- [43] 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, 11 (09):
- [44] A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 343 - 343
- [48] Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature MOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (04):