메뉴 건너뛰기




Volumn 34, Issue 10, 1997, Pages 813-816

A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism

Author keywords

Fanconi anaemia; Hypogonadism; Microcephaly; Thumb malformations

Indexed keywords

ADOLESCENT; ADULT; AGED; AMENORRHEA; ARAB; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; AZOOSPERMIA; CHROMOSOME ANALYSIS; FEMALE; HORMONAL THERAPY; HUMAN; HUMAN CELL; HYPOGONADISM; INFANT; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MOLECULAR EVOLUTION; PEDIGREE ANALYSIS; PRENATAL EXPOSURE; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SYNDROME; THUMB MALFORMATION;

EID: 0030774329     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.10.813     Document Type: Article
Times cited : (8)

References (6)
  • 1
    • 0013656160 scopus 로고
    • The genetics of hand malformations
    • Temtamy S, McKusick V. The genetics of hand malformations. Birth Defects 1978;14:36-184.
    • (1978) Birth Defects , vol.14 , pp. 36-184
    • Temtamy, S.1    McKusick, V.2
  • 2
    • 0040920369 scopus 로고    scopus 로고
    • Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center of Biotechnology Information, National Library of Medicine (Bethesda, MD)
    • On Line Mendelian Inheritance in Man (TM). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center of Biotechnology Information, National Library of Medicine (Bethesda, MD), 1997.
    • (1997) On Line Mendelian Inheritance in Man (TM)
  • 3
    • 0020351041 scopus 로고
    • Spectrum of anomalies in Fanconi anaemia
    • Glanz A, Fraser CF. Spectrum of anomalies in Fanconi anaemia. J Med Genet 1982;19:412-16.
    • (1982) J Med Genet , vol.19 , pp. 412-416
    • Glanz, A.1    Fraser, C.F.2
  • 5
    • 0026593993 scopus 로고
    • The orocraniodigital syndrome of Juberg and Hayward
    • Verloes A, Le Merrer M, Davin JC, et al. The orocraniodigital syndrome of Juberg and Hayward. J Med Genet 1992;29:262-5.
    • (1992) J Med Genet , vol.29 , pp. 262-265
    • Verloes, A.1    Le Merrer, M.2    Davin, J.C.3
  • 6
    • 0028618372 scopus 로고
    • A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung disease
    • Puflenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung disease. Cell 1994;79:1257-66.
    • (1994) Cell , vol.79 , pp. 1257-1266
    • Puflenberger, E.G.1    Hosoda, K.2    Washington, S.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.