Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital MicrocephalyMateusz Dawidziuk, Wojciech Wiszniewski, Magdalena Badura‐Stronka et al.|Genes|2021Cited by 30
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 geneAleksander Jamsheer, Anna Latos‐Bieleńska, Ewelina Bukowska‐Olech et al.|Journal of Human Genetics|2016Cited by 23