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Journal Abstract Search

202 related items for PubMed ID: 33460028

  • 21.
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  • 22. New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.
    Aoyama KI, Kimura M, Yamazaki H, Uchibori M, Kojima R, Osawa Y, Hosomichi K, Ota Y, Tanaka M, Yamada S, Nishimura G.
    BMC Med Genet; 2019 Jul 16; 20(1):126. PubMed ID: 31311520
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  • 23. 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, Garcia-Puig M, Corripio R.
    Am J Case Rep; 2021 Dec 19; 22():e933919. PubMed ID: 34923567
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  • 25. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
    Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA.
    Clin Genet; 2012 Aug 19; 82(2):140-6. PubMed ID: 21815888
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  • 26. "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II.
    Bang GM, Kirmani S, Patton A, Pulido JS, Brodsky MC.
    J AAPOS; 2013 Feb 19; 17(1):100-2. PubMed ID: 23337351
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  • 31. Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect.
    Meng L, Tu C, Lu G, Lin G, Tan Y.
    Sci China Life Sci; 2019 Jan 19; 62(1):144-147. PubMed ID: 29961235
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  • 33. A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).
    Dehghan Tezerjani M, Vahidi Mehrjardi MY, Hozhabri H, Rahmanian M.
    Front Pediatr; 2020 Jan 19; 8():340. PubMed ID: 32671003
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  • 34. Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.
    Weiss K, Ekhilevitch N, Cohen L, Bratman-Morag S, Bello R, Martinez AF, Hadid Y, Shlush LI, Kurolap A, Paperna T, Mory A, Baris HN, Muenke M.
    Eur J Med Genet; 2020 Feb 19; 63(2):103643. PubMed ID: 30922925
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  • 35. Ocular characteristics in a variant microcephalic primordial dwarfism type II.
    Chen WJ, Huang FC, Shih MH.
    BMC Pediatr; 2019 Sep 11; 19(1):329. PubMed ID: 31510961
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  • 36. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
    Wang Y, Wu X, Du L, Zheng J, Deng S, Bi X, Chen Q, Xie H, Férec C, Cooper DN, Luo Y, Fang Q, Chen JM.
    Hum Genomics; 2018 Jan 25; 12(1):3. PubMed ID: 29370840
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  • 38. Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II).
    Bauduer F.
    Med Hypotheses; 2016 Jul 25; 92():26-7. PubMed ID: 27241249
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