Associated Papers
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
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
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
Deletion and point mutations of PTHLH cause brachydactyly type E.
Klopocki E et al.
American Journal of Human Genetics, 2010
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