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.
Journal of human genetics | 2016-05-01 | PMID 26763883
Jamsheer Aleksander, Sowińska-Seidler Anna, Olech Ewelina M and 6 more
Genes: PTHLH, HOXD13
