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Journal Abstract Search

343 related items for PubMed ID: 24387693

  • 1. Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.
    Peters T, Perrier R, Haber RM.
    Pediatr Dermatol; 2014; 31(2):220-4. PubMed ID: 24387693
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  • 2. Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia.
    Almeida L, Anyane-Yeboa K, Grossman M, Rosen T.
    Am J Med Genet; 1988 Aug; 30(4):917-23. PubMed ID: 3189414
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  • 3. A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient.
    Lasocki AL, Stark Z, Orchard D.
    Australas J Dermatol; 2011 Feb; 52(1):48-51. PubMed ID: 21332693
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  • 4. Association of bilateral internuclear ophthalmoplegia and myelomeningocele with Arnold-Chiari malformation, type II.
    Woody RC, Reynolds JD.
    J Clin Neuroophthalmol; 1985 Jun; 5(2):124-6. PubMed ID: 2947916
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  • 5. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients.
    Gisseman JD, Herce HH.
    Am J Med Genet C Semin Med Genet; 2016 Mar; 172C(1):59-63. PubMed ID: 27001926
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  • 6. A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report.
    Durmaz CD, McGrath J, Liu L, Karabulut HG.
    Cytogenet Genome Res; 2018 Mar; 154(3):119-121. PubMed ID: 29525789
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  • 10. Focal dermal hypoplasia without focal dermal hypoplasia.
    Contreras-Capetillo SN, Lombardi MP, Pinto-Escalante D, Hennekam RC.
    Am J Med Genet A; 2014 Mar; 164A(3):778-81. PubMed ID: 24357603
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  • 11. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.
    Bostwick B, Fang P, Patel A, Sutton VR.
    Am J Med Genet C Semin Med Genet; 2016 Mar; 172C(1):9-20. PubMed ID: 26853229
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  • 13. Goltz syndrome and PORCN mosaicism.
    Stevenson DA, Chirpich M, Contreras Y, Hanson H, Dent K.
    Int J Dermatol; 2014 Dec; 53(12):1481-4. PubMed ID: 25040319
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  • 14. Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature.
    Rohdenburg C, Liersch J, Kutsche K, Schaller J.
    Am J Dermatopathol; 2020 Sep; 42(9):653-661. PubMed ID: 31789838
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  • 15. Waardenburg syndrome associated with meningomyelocele.
    Carezani-Gavin M, Clarren SK, Steege T.
    Am J Med Genet; 1992 Jan 01; 42(1):135-6. PubMed ID: 1308353
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  • 19. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).
    Bree AF, Grange DK, Hicks MJ, Goltz RW.
    Am J Med Genet C Semin Med Genet; 2016 Mar 01; 172C(1):44-51. PubMed ID: 26858134
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