Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II
Author:
Funder
Vietnam Academy of Science and Technology
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://link.springer.com/content/pdf/10.1007/s13258-020-01032-5.pdf
Reference27 articles.
1. Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT et al (2020) Microcephalic osteodysplastic primordial dwarfism type II: additional nine patients with implications on phenotype and genotype correlation. Am J Med Genet A 182(6):1407–1420. https://doi.org/10.1002/ajmg.a.61585
2. Bober MB, Jackson AP (2017) Microcephalic osteodysplastic Primordial dwarfism, type II: a clinical review. Curr Osteoporos Rep 15(2):61–69. https://doi.org/10.1007/s11914-017-0348-1
3. Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EMHF et al (2012) Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet 158A(11):2719–2725. https://doi.org/10.1002/ajmg.a.35447
4. Brancati F, Castori M, Mingarelli R, Dallapiccola B (2005) Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet A 139(3):212–215. https://doi.org/10.1002/ajmg.a.31009
5. Chen H, Gos A, Morris MA, Antonarakis SE (1996) Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter. Genomics 35(3):620–624. https://doi.org/10.1006/geno.1996.0411
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