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
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.
Bae J et al.
Endocrinology and Metabolism (seoul, Korea), 2018
The p.R56* mutation in PTHLH causes variable brachydactyly type E.
Pereda A et al.
American Journal of Medical Genetics. Part A, 2017
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
Jamsheer A et al.
Journal of Human Genetics, 2016
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