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Journal Abstract Search

202 related items for PubMed ID: 33460028

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  • 2. A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.
    Liu H, Tao N, Wang Y, Yang Y, He X, Zhang Y, Zhou Y, Liu X, Feng X, Sun M, Xu F, Su Y, Li L.
    Mol Genet Genomic Med; 2021 Sep; 9(9):e1761. PubMed ID: 34331829
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  • 3. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
    Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT, El-Kamah G, Effat LK, Eid M, Zaki MS, Temtamy SA, Abdel-Hamid MS.
    Am J Med Genet A; 2020 Jun; 182(6):1407-1420. PubMed ID: 32267100
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  • 4. Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.
    Li FF, Wang XD, Zhu MW, Lou ZH, Zhang Q, Zhu CY, Feng HL, Lin ZG, Liu SL.
    Metab Brain Dis; 2015 Dec; 30(6):1387-94. PubMed ID: 26231886
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  • 11. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
    Dieks JK, Baumer A, Wilichowski E, Rauch A, Sigler M.
    Eur J Pediatr; 2014 Sep; 173(9):1253-6. PubMed ID: 24973050
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  • 13. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.
    Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP.
    Am J Med Genet A; 2012 Nov; 158A(11):2719-25. PubMed ID: 22821869
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