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Journal Abstract Search

153 related items for PubMed ID: 26014843

  • 1. Large deletions in the NSDHL gene in two patients with CHILD syndrome.
    Yang Z, Hartmann B, Xu Z, Ma L, Happle R, Schlipf N, Zhang LX, Xu ZG, Wang ZY, Fischer J.
    Acta Derm Venereol; 2015 Nov; 95(8):1007-8. PubMed ID: 26014843
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  • 7. Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.
    Hettiarachchi D, Panchal H, Lai PS, Dissanayake VHW.
    BMC Med Genet; 2020 Aug 20; 21(1):164. PubMed ID: 32819291
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  • 9. Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus.
    Juratli HA, König A, Happle R.
    J Eur Acad Dermatol Venereol; 2020 Feb 20; 34(2):e70-e72. PubMed ID: 31502355
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  • 12. CHILD syndrome: effective treatment of ichthyosiform naevus with oral and topical ketoconazole.
    Liu T, Qian G, Wang XX, Zhang YG.
    Acta Derm Venereol; 2015 Jan 20; 95(1):91-2. PubMed ID: 24696032
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  • 13. Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.
    Getz GI, Parag-Sharma K, Reside J, Padilla RJ, Amelio AL.
    Oral Surg Oral Med Oral Pathol Oral Radiol; 2019 Jul 20; 128(1):60-69. PubMed ID: 31078502
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  • 15. The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
    Seeger MA, Paller AS.
    Biochim Biophys Acta; 2014 Mar 20; 1841(3):345-52. PubMed ID: 24060582
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  • 16. CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.
    Gantner S, Rütten A, Requena L, Gassenmaier G, Landthaler M, Hafner C.
    J Cutan Pathol; 2014 Oct 20; 41(10):787-90. PubMed ID: 25093865
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  • 17. Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia.
    Estapé A, Josifova D, Rampling D, Glover M, Kinsler VA.
    Br J Dermatol; 2015 Jul 20; 173(1):304-7. PubMed ID: 25533639
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  • 18. CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.
    Bergqvist C, Abdallah B, Hasbani DJ, Abbas O, Kibbi AG, Hamie L, Kurban M, Rubeiz N.
    Am J Med Genet A; 2018 Mar 20; 176(3):733-738. PubMed ID: 29392821
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  • 19. Expression profile of NSDHL in human peripheral tissues.
    Morimoto M, Souich Cd, Trinh J, McLarren KW, Boerkoel CF, Hendson G.
    J Mol Histol; 2012 Feb 20; 43(1):95-106. PubMed ID: 22113624
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  • 20. A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
    Tan EC, Chia SY, Rafi'ee K, Lee SX, Kwek ABE, Tan SH, Ng VWL, Wei H, Koo S, Koh AL, Koh MJ.
    Mol Genet Genomic Med; 2022 Jan 20; 10(1):e1848. PubMed ID: 34957706
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