共 50 条
- [1] A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (09):
- [9] Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms Metabolic Brain Disease, 2015, 30 : 1387 - 1394
- [10] Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II Genes & Genomics, 2021, 43 : 115 - 121