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Journal Abstract Search

155 related items for PubMed ID: 16088165

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  • 4. 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. Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.
    Schmidt-Sidor B, Obersztyn E, Szymańska K, Wychowski J, Mierzewska H, Wierzba-Bobrowicz T, Stepień T.
    Folia Neuropathol; 2008 Nov; 46(3):232-7. PubMed ID: 18825599
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  • 8. Mild clinical presentation of a patient with a mutation in the NSDHL gene.
    Ormerod E, Bownass L, Smithson S, Zhang Y, Dunnill MGS.
    Clin Exp Dermatol; 2019 Jun; 44(4):456-458. PubMed ID: 30488480
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  • 9. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
    König A, Happle R, Bornholdt D, Engel H, Grzeschik KH.
    Am J Med Genet; 2000 Feb 14; 90(4):339-46. PubMed ID: 10710235
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  • 11. 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 14; 1841(3):345-52. PubMed ID: 24060582
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  • 14. 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 14; 95(1):91-2. PubMed ID: 24696032
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  • 16. 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 14; 176(3):733-738. PubMed ID: 29392821
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  • 17. 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 14; 128(1):60-69. PubMed ID: 31078502
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  • 18. 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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  • 19. Mutational spectrum of NSDHL in CHILD syndrome.
    Bornholdt D, König A, Happle R, Leveleki L, Bittar M, Danarti R, Vahlquist A, Tilgen W, Reinhold U, Poiares Baptista A, Grosshans E, Vabres P, Niiyama S, Sasaoka K, Tanaka T, Meiss AL, Treadwell PA, Lambert D, Camacho F, Grzeschik KH.
    J Med Genet; 2005 Feb 20; 42(2):e17. PubMed ID: 15689440
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