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
Aleksander Jamsheer(Poznan University of Medical Sciences), Anna Latos‐Bieleńska(Poznan University of Medical Sciences), Tomasz Trzeciak(Poznan University of Medical Sciences), Antoni Pyrkosz(University of Rzeszów), Anna Sowińska‐Seidler(Poznan University of Medical Sciences), Magdalena Socha(Poznan University of Medical Sciences), Anna Materna‐Kiryluk(Poznan University of Medical Sciences), Ewelina Bukowska‐Olech(Poznan University of Medical Sciences), K. Kozlowski(Sydney Children's Hospital)
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