Associated Papers
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
Sun J et al.
Molecular Genetics & Genomic Medicine, 2024
A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
Scheffer-Rath MEA et al.
Bone Reports, 2023
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Riggs ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31690835 (PubMed )
Supplement: NIHMS1596793-supplement-Supplementary___Appendix__online_only_material__etc___4.pdf
Search for Novel Mutational Targets in Human Endocrine Diseases.
Park SY et al.
Endocrinology and Metabolism (seoul, Korea), 2019
The Effects of Neoadjuvant Chemoradiation in Locally Advanced Rectal Cancer-The Impact in Intratumoral Heterogeneity.
Bettoni F et al.
Frontiers in Oncology, 2019
31612112 (PubMed )
Supplement: Table_4.XLSX › Supplementary_Table_4
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.
Bae J et al.
Endocrinology and Metabolism (seoul, Korea), 2018
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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