共 50 条
- [31] A O-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) AMERICAN JOURNAL OF CASE REPORTS, 2021, 22
- [32] Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome European Journal of Pediatrics, 2014, 173 : 1253 - 1256
- [35] Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II Genes & Genomics, 2021, 43 : 115 - 121
- [36] Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II) European Journal of Pediatrics, 2012, 171 : 1567 - 1571
- [39] Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect Science China Life Sciences, 2019, 62 : 144 - 147