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Volumn 142, Issue 3, 2006, Pages 348-351

CHILD syndrome in 3 generations: The importance of mild or minimal skin lesions

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM NEVUS AND LIMB DEFECTS; DNA DETERMINATION; DYSPLASIA; FEMALE; GENETIC DISORDER; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; PEDIGREE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKIN DEFECT;

EID: 33645103857     PISSN: 0003987X     EISSN: 0003987X     Source Type: Journal    
DOI: 10.1001/archderm.142.3.348     Document Type: Article
Times cited : (38)

References (14)
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  • 2
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    • Happle, R.1
  • 3
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    • Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome
    • König A, Happle R, Bornholdt D, Engel H, Grzeschik KH. Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000;90:339-346.
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  • 4
    • 0029161652 scopus 로고
    • The CHILD nevus: A distinct skin disorder
    • Happle R, Mittag H, Küster W. The CHILD nevus: a distinct skin disorder. Dermatology. 1995;191:210-216.
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  • 5
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    • Mosaicism in human skin: Understanding the patterns and mechanisms
    • Happle R. Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol. 1993;129:1460-1470.
    • (1993) Arch Dermatol , vol.129 , pp. 1460-1470
    • Happle, R.1
  • 7
    • 0018776066 scopus 로고
    • Inflammatory variable epidermal naevus (atypical I.L.V.E.N.? A new entity?)
    • Baptista AP, Cortesâo JM. Inflammatory variable epidermal naevus (atypical I.L.V.E.N.? a new entity?) [in French]. Ann Dermatol Venereol. 1979;106:443-450.
    • (1979) Ann Dermatol Venereol , vol.106 , pp. 443-450
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  • 8
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    • CHILD syndrome in a mother and daughter
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  • 9
    • 0024526358 scopus 로고
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  • 10
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    • Congenital unilateral ichthyosiform erythroderma with ipsilateral hypoplasia of upper and lower limbs
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    • (1975) Birth Defects , vol.11 , pp. 333-334
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  • 12
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    • Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human
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    • (1998) Eur J Hum Genet , vol.6 , pp. 552-562
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  • 13
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  • 14
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.