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Journal Abstract Search

156 related items for PubMed ID: 38407575

  • 1. A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
    Sun J, Yang N, Xu Z, Cheng H, Zhang X.
    Mol Genet Genomic Med; 2024 Feb; 12(2):e2393. PubMed ID: 38407575
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  • 2. Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
    Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A.
    J Hum Genet; 2016 May; 61(5):457-61. PubMed ID: 26763883
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  • 4. Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.
    Wang J, Wang Z, An Y, Wu C, Xu Y, Fu Q, Shen Y, Zhang Q.
    Clin Chim Acta; 2015 Jun 15; 446():9-14. PubMed ID: 25801215
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  • 10. A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.
    Reyes M, Bravenboer B, Jüppner H.
    J Bone Miner Res; 2019 Mar 15; 34(3):482-489. PubMed ID: 30458061
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  • 14. Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
    Elli FM, Mattinzoli D, Lucca C, Piu M, Maffini MA, Costanza J, Fontana L, Santaniello C, Forino C, Milani D, Bonati MT, Secco A, Gastaldi R, Alfieri C, Messa P, Miozzo M, Arosio M, Mantovani G.
    J Bone Miner Res; 2022 Mar 15; 37(3):465-474. PubMed ID: 34897794
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  • 15. Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.
    Jamsheer A, Sowińska A, Kaczmarek L, Latos-Bieleńska A.
    BMC Med Genet; 2012 Jan 10; 13():4. PubMed ID: 22233338
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  • 16. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
    Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE.
    J Clin Endocrinol Metab; 2020 Aug 01; 105(8):. PubMed ID: 32311039
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