Title: 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
Authors: Aleksander Jamsheer, Anna Sowińska-Seidler, Ewelina Olech, Magdalena Socha, Kazimierz Kozłowski, Antoni Pyrkosz, Tomasz Trzeciak, Anna Materna-Kiryluk, Anna Latos-Bieleńska
Journal: Journal of Human Genetics
Publication type: article
DOI: 10.1038/jhg.2015.172