Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect.

Meng L, Tu C, Lu G, Lin G, Tan Y. Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. Sci China Life Sci. 2018.