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Journal Abstract Search

410 related items for PubMed ID: 24411048

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  • 3. p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.
    Bengur FB, Ekmekci CG, Karaarslan E, Gunoz H, Alanay Y.
    Eur J Med Genet; 2020 Feb; 63(2):103659. PubMed ID: 31048079
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  • 4. 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; 58(8):705-8. PubMed ID: 26716907
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  • 6. 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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  • 7. 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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  • 8. Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias.
    Kotysova L, Mattosova S, Chandoga J.
    Bratisl Lek Listy; 2015 Sep 23; 116(8):465-8. PubMed ID: 26350084
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  • 9. 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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  • 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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  • 11. Homozygous N540K hypochondroplasia--first report: radiological and clinical features.
    De Rosa ML, Fano V, Araoz HV, Chertkoff L, Obregon MG.
    Am J Med Genet A; 2014 Jul 23; 164A(7):1784-8. PubMed ID: 24715719
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  • 18. Children with short-limbed short stature in pediatric endocrinological services in Japan.
    Hasegawa K, Tanaka H.
    Pediatr Int; 2014 Dec 23; 56(6):809-812. PubMed ID: 25244068
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  • 19. Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review.
    Yao G, Wang G, Wang D, Su G.
    Medicine (Baltimore); 2019 Jan 23; 98(4):e14157. PubMed ID: 30681580
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