Associated Papers
A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.
Monahan G et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort.
Modafferi C et al.
European Journal of Human Genetics : Ejhg, 2024
Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2024
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