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Volumn 15, Issue 4, 2004, Pages 477-480

Megalocornea-mental retardation (MMR or Neuhauser) syndrome: Another case associated with cerebral cortical atrophy and bifid uvula [1]

Author keywords

[No Author keywords available]

Indexed keywords

BIFID UVULA; BRAIN CORTEX ATROPHY; CASE REPORT; CLINICAL FEATURE; FACE DYSMORPHIA; HUMAN; INFANT; LETTER; MALE; MEGALOCORNEA; MENTAL DEFICIENCY; MOTOR RETARDATION; MUSCLE HYPOTONIA; NEUHAUSER SYNDROME; PALATE MALFORMATION; SYNDROME;

EID: 11144329499     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter
Times cited : (6)

References (11)
  • 1
    • 0036658955 scopus 로고    scopus 로고
    • Megalocornea, macrocephaly, mental and motor retardation: MMMM syndrome (Neuhauser syndrome) in two sisters with hypoplastic corpus callosum
    • BALCI S., TEKŞAM Ö., GEDIK Ş.: Megalocornea, macrocephaly, mental and motor retardation: MMMM syndrome (Neuhauser syndrome) in two sisters with hypoplastic corpus callosum. Turk. J. Pediatr., 2002, 44, 274-277.
    • (2002) Turk. J. Pediatr. , vol.44 , pp. 274-277
    • Balci, S.1    Tekşam, Ö.2    Gedik, Ş.3
  • 2
    • 0029907482 scopus 로고    scopus 로고
    • Megalocornea-mental retardation syndrome: Report of a new case
    • BARIŠIĆ I., LIGUTÝĆ I, ZERGOLLERN L.: Megalocornea-mental retardation syndrome: report of a new case. J. Med. Genet., 1996, 33, 882-883.
    • (1996) J. Med. Genet. , vol.33 , pp. 882-883
    • Barišić, I.1    Ligutýć, I.2    Zergollern, L.3
  • 6
    • 0024384396 scopus 로고
    • Megalocornea and mental retardation syndrome: A new case
    • GRØNBECH-JENSEN M.: Megalocornea and mental retardation syndrome: a new case. Am. J. Med. Genet., 1989, 32, 468-469.
    • (1989) Am. J. Med. Genet. , vol.32 , pp. 468-469
    • GrØnbech-Jensen, M.1
  • 8
    • 0016594780 scopus 로고
    • Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocornea, recessively inherited
    • NEUHAUSER G.E., KAVEGGIA G., FRANCE T.D., OPITZ J.M.: Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocornea, recessively inherited. Z. Kinderheilk, 1975, 120, 1-18.
    • (1975) Z. Kinderheilk , vol.120 , pp. 1-18
    • Neuhauser, G.E.1    Kaveggia, G.2    France, T.D.3    Opitz, J.M.4
  • 9
    • 0026610162 scopus 로고
    • Additional case of Neuhauser megalocornea and mental retardation syndrome with congenital hypotonia
    • SANTOLAYA J.M., GRIJALBO A., DELGADO A., ERDOZAÍN G.: Additional case of Neuhauser megalocornea and mental retardation syndrome with congenital hypotonia. Am. J. Med. Genet., 1992, 43, 609-611.
    • (1992) Am. J. Med. Genet. , vol.43 , pp. 609-611
    • Santolaya, J.M.1    Grijalbo, A.2    Delgado, A.3    Erdozaín, G.4
  • 10
    • 0036707799 scopus 로고    scopus 로고
    • Primary hypothyroidism and osteopenia associated with Neuhauser syndrome
    • SARKOZY A., MINGARELLI R., BRANCATI F., DALLAPICCOLA B.: Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. Am. J. Med. Genet., 2002, 111, 412-414.
    • (2002) Am. J. Med. Genet. , vol.111 , pp. 412-414
    • Sarkozy, A.1    Mingarelli, R.2    Brancati, F.3    Dallapiccola, B.4
  • 11
    • 0027460382 scopus 로고
    • Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types
    • VERLOES A., JOURNEL H., ELMER C., MISSON J.P., LE MERRER M., KAPLAN J., MALDERGEM L.V., DECONINCK H., MEIRE F.: Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types. Am. J. Med. Genet., 1993, 46, 132-137.
    • (1993) Am. J. Med. Genet. , vol.46 , pp. 132-137
    • Verloes, A.1    Journel, H.2    Elmer, C.3    Misson, J.P.4    Le Merrer, M.5    Kaplan, J.6    Maldergem, L.V.7    Deconinck, H.8    Meire, F.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.