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
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
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
Thomas-Teinturier C et al.
American Journal of Medical Genetics. Part A, 2016
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.
Wang J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Deletion and point mutations of PTHLH cause brachydactyly type E.
Klopocki E et al.
American Journal of Human Genetics, 2010
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