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Volumn 35, Issue 9, 1998, Pages 755-758

Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: A new MCA/MR syndrome

Author keywords

Autosomal recessive; Bowed tibiae; Cataract; Deafness

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MALFORMATION; CASE REPORT; CATARACT; CONSANGUINEOUS MARRIAGE; ELBOW; FEMALE; HEARING IMPAIRMENT; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; TIBIA;

EID: 0031846386     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.9.755     Document Type: Article
Times cited : (2)

References (6)
  • 2
    • 0029071215 scopus 로고
    • Oto-palato-digital syndrome with features of type I and II in brothers
    • Horn D, Nitz I, Bollmann R. Oto-palato-digital syndrome with features of type I and II in brothers. Genet Courts 1995;6:233-40.
    • (1995) Genet Courts , vol.6 , pp. 233-240
    • Horn, D.1    Nitz, I.2    Bollmann, R.3
  • 3
    • 0028107312 scopus 로고
    • Larsen's syndrome: Review of the literature and analysis of thirty-eight cases
    • Laville JM, Lakermance P, Limouzy F. Larsen's syndrome: review of the literature and analysis of thirty-eight cases. J Pediatr Orthop 1994;14:63-73.
    • (1994) J Pediatr Orthop , vol.14 , pp. 63-73
    • Laville, J.M.1    Lakermance, P.2    Limouzy, F.3
  • 4
    • 0017831175 scopus 로고
    • Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers
    • Martsolf JT, Hunter AGW, Haworth JC. Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers. Am J Med Genet 1978;1:291-9.
    • (1978) Am J Med Genet , vol.1 , pp. 291-299
    • Martsolf, J.T.1    Hunter, A.G.W.2    Haworth, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.