Associated Papers
A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II).
Eslava A et al.
The American Journal of Case Reports, 2021
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2020
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.
Weiss K et al.
European Journal of Medical Genetics, 2020
Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene.
Ghosh S et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2020
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).
Dehghan Tezerjani M et al.
Frontiers in Pediatrics, 2020
32671003 (PubMed )
Supplement: Table_1.xlsx › Sheet1
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
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