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Journal Abstract Search

254 related items for PubMed ID: 28830906

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  • 24. A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).
    Mustafa S, Akhtar Z, Latif M, Hassan M, Faisal M, Iqbal F.
    Genes Genomics; 2020 Aug; 42(8):847-854. PubMed ID: 32506268
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  • 29. 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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  • 32. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
    Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Makitie O.
    J Bone Miner Res; 2022 Sep 25; 37(9):1642-1652. PubMed ID: 35748595
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  • 36. [Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia].
    Dong X, Zheng X, Lin F, Fang S, Dong H, Wang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul 10; 40(7):856-859. PubMed ID: 37368390
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  • 39. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
    Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A.
    J Clin Endocrinol Metab; 2017 Feb 01; 102(2):460-469. PubMed ID: 27870580
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  • 40. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.
    Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y.
    Am J Hum Genet; 1998 Dec 01; 63(6):1659-62. PubMed ID: 9837818
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