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Volumn 29, Issue 4, 2008, Pages 177-180

The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks syndrome)

Author keywords

Duane syndrome; Epibulbar Dermoid; SALL1; SALL4; Townes Brocks syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CROCODILE TEAR SYNDROME; DUANE RETRACTION SYNDROME; EPIBULBAR DERMOID; EYE EXAMINATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; LACRIMATION DISORDER; MALE; MUTAGENESIS; PATHOGENESIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SALL1 GENE; TERATOMA; TOWNES BROCKS SYNDROME; ANUS ATRESIA; CONGENITAL HYPOTHYROIDISM; CONGENITAL MALFORMATION; EAR; EYELID TUMOR; GENETICS; HAND MALFORMATION; INFANT; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; SYNDROME;

EID: 56149088717     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802354224     Document Type: Article
Times cited : (14)

References (9)
  • 7
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    • Congenital crocodile tears: A clue to the aetiology of Duane's syndrome
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    • Ramsay, J.1    Taylor, D.2
  • 8
    • 0037488242 scopus 로고    scopus 로고
    • Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
    • Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet. 2003;40(7):473-8.
    • (2003) J Med Genet , vol.40 , Issue.7 , pp. 473-478
    • Kohlhase, J.1    Schubert, L.2    Liebers, M.3    Rauch, A.4    Becker, K.5    Mohammed, S.N.6    Newbury-Ecob, R.7    Reardon, W.8
  • 9
    • 33747730205 scopus 로고    scopus 로고
    • The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development
    • Sakaki-Yumoto M, Kobayashi C, Sato A, Fujimura S, Matsumoto Y, Takasato M, Kodama T, Aburatani H, Asashima M, Yoshida M, Nishinakamura R. The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. Development. 2006;133(15):3005-13.
    • (2006) Development , vol.133 , Issue.15 , pp. 3005-3013
    • Sakaki-Yumoto, M.1    Kobayashi, C.2    Sato, A.3    Fujimura, S.4    Matsumoto, Y.5    Takasato, M.6    Kodama, T.7    Aburatani, H.8    Asashima, M.9    Yoshida, M.10    Nishinakamura, R.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.