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Journal Abstract Search

178 related items for PubMed ID: 16549711

  • 1. CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.
    Bittar M, Happle R, Grzeschik KH, Leveleki L, Hertl M, Bornholdt D, König A.
    Arch Dermatol; 2006 Mar; 142(3):348-51. PubMed ID: 16549711
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  • 3. 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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  • 5. Donor dominance cures CHILD nevus.
    König A, Skrzypek J, Löffler H, Oeffner F, Grzeschik KH, Happle R.
    Dermatology; 2010 Feb 14; 220(4):340-5. PubMed ID: 20389027
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  • 8. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
    König A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH.
    J Am Acad Dermatol; 2002 Apr 14; 46(4):594-6. PubMed ID: 11907515
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  • 9. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
    Preiksaitiene E, Caro A, Benušienė E, Oltra S, Orellana C, Morkūnienė A, Roselló MP, Kasnauskiene J, Monfort S, Kučinskas V, Mayo S, Martinez F.
    Am J Med Genet A; 2015 Jun 14; 167(6):1342-8. PubMed ID: 25900314
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  • 13. CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol.
    Yu X, Zhang J, Gu Y, Deng D, Wu Z, Bao L, Li M, Yao Z.
    J Eur Acad Dermatol Venereol; 2018 Jul 14; 32(7):1209-1213. PubMed ID: 29341259
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  • 15. 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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  • 16. A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma.
    Mehra S, Li L, Fan CY, Smoller B, Morgan M, Somach S.
    Arch Dermatol; 2005 Oct 14; 141(10):1263-7. PubMed ID: 16230564
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  • 17. A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
    Raychaudhury T, George R, Mandal K, Srivastava VM, Thomas M, Bornholdt D, Grzeschik KH, Koehler A.
    Pediatr Dermatol; 2013 Oct 14; 30(2):250-2. PubMed ID: 22471832
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  • 18. 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 14; 44(4):456-458. PubMed ID: 30488480
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  • 19. [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
    Jing F, Yang D, Chen T, Liang L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec 10; 33(6):878-882. PubMed ID: 27984627
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  • 20. CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
    Mi XB, Luo MX, Guo LL, Zhang TD, Qiu XW.
    Pediatr Dermatol; 2015 Dec 10; 32(6):e277-82. PubMed ID: 26459993
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