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Journal Abstract Search

182 related items for PubMed ID: 23996431

  • 1. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
    Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S.
    J Bone Miner Res; 2014 Apr; 29(4):992-8. PubMed ID: 23996431
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  • 2. [Kenny-Caffey syndrome and its related syndromes].
    Isojima T, Kitanaka S.
    Nihon Rinsho; 2015 Nov; 73(11):1959-64. PubMed ID: 26619675
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  • 3. Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).
    Chen X, Zou C.
    Mol Genet Genomic Med; 2024 Apr; 12(4):e2433. PubMed ID: 38591167
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  • 4. Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.
    Cavole TR, Perrone E, de Faria Soares MF, Dias da Silva MR, Maeda SS, Lazaretti-Castro M, Alvarez Perez AB.
    Am J Med Genet A; 2020 Dec; 182(12):3029-3034. PubMed ID: 33010201
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  • 5. Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
    Müller R, Steffensen T, Krstić N, Cain MA.
    Am J Med Genet A; 2021 Jun; 185(6):1903-1907. PubMed ID: 33750016
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  • 10. Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
    Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF.
    J Clin Endocrinol Metab; 2023 Aug 18; 108(9):e754-e768. PubMed ID: 36916904
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  • 12. Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report.
    Yuan N, Lu L, Xing XP, Wang O, Jiang Y, Wu J, He MH, Wang XJ, Cao LW.
    World J Clin Cases; 2023 Apr 06; 11(10):2290-2300. PubMed ID: 37122511
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  • 13.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Cheng S, Lo IFM, Luk HM.
    ; 1993 Apr 06. PubMed ID: 37023242
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  • 14. Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2.
    Eren E, Tezcan Ünlü H, Ceylaner S, Tarım Ö.
    J Clin Res Pediatr Endocrinol; 2023 Feb 27; 15(1):97-102. PubMed ID: 34382758
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  • 17. Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2.
    Deconte D, Kreusch TC, Salvaro BP, Perin WF, Ferreira MAT, Kopacek C, da Rosa EB, Heringer JI, Ligabue-Braun R, Zen PRG, Rosa RFM, Fiegenbaum M.
    J Pediatr Genet; 2020 Dec 27; 9(4):263-269. PubMed ID: 32765931
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  • 19. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
    Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD, HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium.
    Nat Genet; 2002 Nov 27; 32(3):448-52. PubMed ID: 12389028
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