Associated Papers
Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia.
Kim SM et al.
Osteoporosis and Sarcopenia, 2023
Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.
Tang H et al.
Frontiers in Genetics, 2021
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
32160374 (PubMed )
Supplement: HUMU-41-1250-s002.xlsx › Supplemental_table_2
A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study.
Martins L et al.
Bone, 2019
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.
Porntaveetus T et al.
American Journal of Medical Genetics. Part A, 2017
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Taillandier A et al.
Molecular Genetics and Metabolism, 2015
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