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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

202 related items for PubMed ID: 31750994

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  • 2. 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; 12(1):e2319. PubMed ID: 38013226
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  • 4. 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; 39(6):811-815. PubMed ID: 29524275
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  • 6. Severe Cenani-Lenz syndrome caused by loss of LRP4 function.
    Kariminejad A, Stollfuß B, Li Y, Bögershausen N, Boss K, Hennekam RC, Wollnik B.
    Am J Med Genet A; 2013 Jun; 161A(6):1475-9. PubMed ID: 23636941
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  • 8. Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.
    Steel E, Hurst JA, Cullup T, Calder A, Sivakumar B, Shah P, Wilson LC.
    Clin Dysmorphol; 2020 Apr; 29(2):73-80. PubMed ID: 31895055
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  • 11. Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
    Khan H, Chong AEQ, Bilal M, Nawaz S, Abdullah, Abbasi S, Hussain A, Hussain S, Ullah I, Ali H, Xue S, Ahmad W.
    J Hum Genet; 2022 May; 67(5):253-259. PubMed ID: 34857885
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  • 16. A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
    Ali G, Sadia S, Ain-Ul-Batool S, Azeem Z, Awan NB, Kazmi SAR, Ur-Rehman Z, Anjum Z, Ur-Rehman F, Wali A, Khan K, Zaman N, Ayub M, Sajid M, Hassan N.
    Genet Res (Camb); 2023 May; 2023():9999660. PubMed ID: 37829154
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  • 19. Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation.
    Bilal M, Hayat A, Umair M, Ullah A, Khawaja S, Malik E, Burmeister M, Bibi N, Umm-E-Kalsoom, Memon MI, Basit S, Ahmad W, Khan B.
    Genet Test Mol Biomarkers; 2020 Sep; 24(9):600-607. PubMed ID: 32762550
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