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Volumn 149, Issue 5, 2009, Pages 1070-1075

Further clinical delineation of fine-lubinsky syndrome

Author keywords

[No Author keywords available]

Indexed keywords

BRACHYCEPHALY; CASE REPORT; CATARACT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; DISEASE CLASSIFICATION; FINE LUBINSKY SYNDROME; HEARING IMPAIRMENT; HUMAN; INFANT; LETTER; MALE; MENTAL DEFICIENCY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; THORAX RADIOGRAPHY;

EID: 66849099870     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32780     Document Type: Letter
Times cited : (3)

References (12)
  • 2
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    • Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
    • Ayme S, Philip N. 1997. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. Am J Med Genet 70:333.
    • (1997) Am J Med Genet , vol.70 , pp. 333
    • Ayme, S.1    Philip, N.2
  • 3
    • 0021053549 scopus 로고
    • Craniofacial and CNS anomalies with body asymmetry, severe retardation and other malformations
    • Fine BA, Lubinsky M. 1983. Craniofacial and CNS anomalies with body asymmetry, severe retardation and other malformations. J Clin Dysmor- phol 1:6-9.
    • (1983) J Clin Dysmor- phol , vol.1 , pp. 6-9
    • Fine, B.A.1    Lubinsky, M.2
  • 4
    • 0030067469 scopus 로고    scopus 로고
    • Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, an mental retardation
    • Gripp KW, Nicholson L, Scott CIJr. 1996. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, an mental retardation. Am J Med Genet 61: 382-386.
    • (1996) Am J Med Genet , vol.61 , pp. 382-386
    • Gripp, K.W.1    Nicholson, L.2    CIJr, S.3
  • 6
    • 35848960372 scopus 로고    scopus 로고
    • Fine-Lubinsky syndrome: Sibling pair suggest possible autosomal recessive inheritance
    • Holder AM, Graham BH, Lee B, Scott DA. 2007. Fine-Lubinsky syndrome: Sibling pair suggest possible autosomal recessive inheritance. Am J Med Genet Part A 143A:2576-2580.
    • (2007) Am J Med Genet , vol.143 A , Issue.PART A , pp. 2576-2580
    • Holder, A.M.1    Graham, B.H.2    Lee, B.3    Scott, D.A.4
  • 9
    • 0036018128 scopus 로고    scopus 로고
    • A variant ofFine- Lubinsky syndrome: A Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis
    • Nakane T, Mizobe N, Hayashibe H, Nakazawa S. 2002. A variant ofFine- Lubinsky syndrome: A Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. Clin Dysmorphol 11:195-198.
    • (2002) Clin Dysmorphol , vol.11 , pp. 195-198
    • Nakane, T.1    Mizobe, N.2    Hayashibe, H.3    Nakazawa, S.4
  • 10
    • 0021396401 scopus 로고
    • Sensorineural hearing loss, small facial features, submucous cleft palate, and myoclonic seizures
    • Preus M, Cooper AR, O'Leary E. 1984. Sensorineural hearing loss, small facial features, submucous cleft palate, and myoclonic seizures. J Clin Dysmorphol 2:30-31.
    • (1984) J Clin Dysmorphol , vol.2 , pp. 30-31
    • Preus, M.1    Cooper, A.R.2    O'Leary, E.3
  • 11
    • 42349117050 scopus 로고    scopus 로고
    • FetalmanifestationoftheFine- Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios
    • SchonerK, BaldR, FritzB, RehderH. 2008. FetalmanifestationoftheFine- Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios. Fetal Diagn Ther 23:228-232.
    • (2008) Fetal Diagn Ther , vol.23 , pp. 228-232
    • SchonerK1    BaldR2    FritzB3    RehderH4
  • 12
    • 0027373142 scopus 로고
    • A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation
    • Suthers GK, Earley AE, Huson SM. 1993. A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation. Clin Dysmorphol 2:342-345.
    • (1993) Clin Dysmorphol , vol.2 , pp. 342-345
    • Suthers, G.K.1    Earley, A.E.2    Huson, S.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.