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Journal Abstract Search

158 related items for PubMed ID: 29080836

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  • 3. A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.
    Wang H, Sun Y, Wu W, Wei X, Lan Z, Xie J.
    Clin Chim Acta; 2013 Aug 23; 423():62-5. PubMed ID: 23726269
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  • 5. Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.
    Sabir AH, Sheikh J, Singh A, Morley E, Cocca A, Cheung MS, Irving M.
    Am J Med Genet A; 2021 Jan 23; 185(1):73-82. PubMed ID: 33051983
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  • 8. Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
    Korkmaz HA, Hazan F, Dizdarer C, Tükün A.
    J Clin Res Pediatr Endocrinol; 2012 Dec 23; 4(4):220-2. PubMed ID: 23149434
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  • 9. ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.
    De Sanctis V, Baldi M, Marsciani A, Ravaioli E, Timoncini G, Reggiani L, Sensi A, Zucchini A.
    Georgian Med News; 2012 Sep 23; (210):77-82. PubMed ID: 23045425
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  • 10. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
    Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, Park YE, Kim SG, Song HR.
    Am J Med Genet A; 2012 Oct 23; 158A(10):2456-62. PubMed ID: 22903874
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  • 12. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
    Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.
    Am J Med Genet A; 2017 Apr 23; 173(4):1097-1101. PubMed ID: 28181399
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  • 13. Low bone mineral density in achondroplasia and hypochondroplasia.
    Matsushita M, Kitoh H, Mishima K, Kadono I, Sugiura H, Hasegawa S, Nishida Y, Ishiguro N.
    Pediatr Int; 2016 Aug 23; 58(8):705-8. PubMed ID: 26716907
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  • 18. Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family.
    González-Del Angel A, Caro-Contreras A, Alcántara-Ortigoza MA, Ramos S, Cruz-Alcívar R, Moyers-Pérez P.
    Am J Med Genet A; 2018 Jan 23; 176(1):161-166. PubMed ID: 29150894
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  • 20. Criteria for radiologic diagnosis of hypochondroplasia in neonates.
    Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A.
    Pediatr Radiol; 2016 Apr 23; 46(4):513-8. PubMed ID: 26867606
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