A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family
Huajie Huang(Southern Medical University), Fu Xiong(Shenzhen Maternity and Child Healthcare Hospital)
Cited by 1
Related Papers
Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature
|BMC Pediatrics|2022|5
Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice
|Neurotherapeutics|2023|3
Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review
|Epilepsy & Behavior|2025|2
Genetic analysis of partial duplication of the long arm of chromosome 16
|BMC Medical Genomics|2024|1