메뉴 건너뛰기




Volumn 59, Issue 5 SUPPL., 2008, Pages

A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CONGENITAL MALFORMATION; FEMALE; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPOTRICHOSIS; ICHTHYOSIS; MENTAL DEFICIENCY; NICOLAIDES BARAITSER SYNDROME; PRIORITY JOURNAL; PULMONARY ARTERY STENOSIS; SCHOOL CHILD;

EID: 53349108384     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2008.05.016     Document Type: Article
Times cited : (5)

References (13)
  • 1
    • 0027275531 scopus 로고
    • An unusual syndrome with mental retardation and sparse hair
    • Nicolaides P., and Baraitser M. An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol 2 (1993) 232-236
    • (1993) Clin Dysmorphol , vol.2 , pp. 232-236
    • Nicolaides, P.1    Baraitser, M.2
  • 2
    • 0030003309 scopus 로고    scopus 로고
    • Another patient with an unusual syndrome of mental retardation and sparse hair?
    • Krajewska-Walasek M., Chrzanowska K., and Czermiska-Kowalska A. Another patient with an unusual syndrome of mental retardation and sparse hair?. Clin Dysmorphol 5 (1996) 183-186
    • (1996) Clin Dysmorphol , vol.5 , pp. 183-186
    • Krajewska-Walasek, M.1    Chrzanowska, K.2    Czermiska-Kowalska, A.3
  • 3
    • 0142043960 scopus 로고    scopus 로고
    • Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals
    • Morin G., Villemain L., Baumann C., Mathieu M., Blanc N., and Verloes A. Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. Clin Dysmorphol 12 (2003) 237-240
    • (2003) Clin Dysmorphol , vol.12 , pp. 237-240
    • Morin, G.1    Villemain, L.2    Baumann, C.3    Mathieu, M.4    Blanc, N.5    Verloes, A.6
  • 4
    • 0038682743 scopus 로고    scopus 로고
    • Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy: a variant example of Nicolaides-Baraitser syndrome?
    • Witters I., and Fryns J.P. Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy: a variant example of Nicolaides-Baraitser syndrome?. Genet Couns 14 (2003) 245-247
    • (2003) Genet Couns , vol.14 , pp. 245-247
    • Witters, I.1    Fryns, J.P.2
  • 7
    • 0035866023 scopus 로고    scopus 로고
    • Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study
    • Fleck B.J., Pandya A., Vanner L., Kerkering K., and Bodurtha J. Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. Am J Med Genet 99 (2001) 1-7
    • (2001) Am J Med Genet , vol.99 , pp. 1-7
    • Fleck, B.J.1    Pandya, A.2    Vanner, L.3    Kerkering, K.4    Bodurtha, J.5
  • 8
    • 0035010089 scopus 로고    scopus 로고
    • Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes
    • Itin P.H., Sarasin A., and Pittelkow M.R. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 44 (2001) 891-920
    • (2001) J Am Acad Dermatol , vol.44 , pp. 891-920
    • Itin, P.H.1    Sarasin, A.2    Pittelkow, M.R.3
  • 11
    • 0032783060 scopus 로고    scopus 로고
    • Clinical manifestations and treatment of Menkes disease and its variants
    • Kodama H., Murata Y., and Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 41 (1999) 423-429
    • (1999) Pediatr Int , vol.41 , pp. 423-429
    • Kodama, H.1    Murata, Y.2    Kobayashi, M.3
  • 12
    • 53349154689 scopus 로고    scopus 로고
    • Biotin-responsive disorders
    • Fernandes J., Saudubray J.M., van den Berghe G., and Walter J.H. (Eds), Springer, Heidelberg, Germany
    • Baumgartner M.R., and Suormala T. Biotin-responsive disorders. In: Fernandes J., Saudubray J.M., van den Berghe G., and Walter J.H. (Eds). Inborn metabolic diseases. 4th ed. (2006), Springer, Heidelberg, Germany 331-339
    • (2006) Inborn metabolic diseases. 4th ed. , pp. 331-339
    • Baumgartner, M.R.1    Suormala, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.