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162 related items for PubMed ID: 34382758

  • 1. 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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  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Cheng S, Lo IFM, Luk HM.
    ; 1993 Feb 27. PubMed ID: 37023242
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  • 3. [Kenny-Caffey syndrome and its related syndromes].
    Isojima T, Kitanaka S.
    Nihon Rinsho; 2015 Nov 27; 73(11):1959-64. PubMed ID: 26619675
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  • 4. 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 27; 29(4):992-8. PubMed ID: 23996431
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  • 5. FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
    Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A.
    Am J Hum Genet; 2013 Jun 06; 92(6):990-5. PubMed ID: 23684011
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  • 8. 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 06; 12(4):e2433. PubMed ID: 38591167
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  • 9. Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.
    Ohmachi Y, Urai S, Bando H, Yokoi J, Yamamoto M, Kanie K, Motomura Y, Tsujimoto Y, Sasaki Y, Oi Y, Yamamoto N, Suzuki M, Shichi H, Iguchi G, Uehara N, Fukuoka H, Ogawa W.
    Front Endocrinol (Lausanne); 2022 Apr 06; 13():1073173. PubMed ID: 36686468
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  • 11. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.
    Abraham MB, Li D, Tang D, O'Connell SM, McKenzie F, Lim EM, Hakonarson H, Levine MA, Choong CS.
    Int J Pediatr Endocrinol; 2017 Apr 06; 2017():1. PubMed ID: 28138333
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  • 12. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
    Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L.
    Genes (Basel); 2022 Jan 28; 13(2):. PubMed ID: 35205306
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  • 13. FAM111A induces nuclear dysfunction in disease and viral restriction.
    Nie M, Oravcová M, Jami-Alahmadi Y, Wohlschlegel JA, Lazzerini-Denchi E, Boddy MN.
    EMBO Rep; 2021 Feb 03; 22(2):e50803. PubMed ID: 33369867
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  • 18. 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 03; 32(3):448-52. PubMed ID: 12389028
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  • 19. Disruption of the c-terminal serine protease domain of Fam111a does not alter calcium homeostasis in mice.
    Tan RSG, Lee CHL, Pan W, Wohlgemuth S, Doschak MR, Alexander RT.
    Physiol Rep; 2024 May 03; 12(9):e15977. PubMed ID: 38697929
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