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Journal Abstract Search

116 related items for PubMed ID: 34857885

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  • 2. Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.
    Khan TN, Klar J, Ali Z, Khan F, Baig SM, Dahl N.
    Eur J Med Genet; 2013 Jul; 56(7):371-4. PubMed ID: 23664847
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  • 3. LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
    Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B.
    Am J Hum Genet; 2010 May 14; 86(5):696-706. PubMed ID: 20381006
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  • 6. Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
    Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Kircher M, Ahituv N.
    Hum Mutat; 2018 Jun 14; 39(6):811-815. PubMed ID: 29524275
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  • 7. A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.
    Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J.
    Mol Genet Genomic Med; 2024 Jan 14; 12(1):e2319. PubMed ID: 38013226
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  • 11. LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.
    Al Jabry T, Al-Hashmi N, Abdelhadi B, Al-Maawali A.
    Eur J Med Genet; 2024 Feb 14; 67():104903. PubMed ID: 38101565
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  • 12. Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.
    Whyte MP, Deepak Amalnath S, McAlister WH, Pedapati R, Muthupillai V, Duan S, Huskey M, Bijanki VN, Mumm S.
    Bone; 2018 Nov 14; 116():321-332. PubMed ID: 30077757
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  • 17. Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.
    Yesodharan D, Krishnan V, Nair IR, Ganapathy A, Mannan AU, Nampoothiri S.
    Am J Med Genet A; 2021 Feb 14; 185(2):620-624. PubMed ID: 33179409
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