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Anophthalmia-Waardenburg syndrome: a report of three cases.
Am J Med Genet. 1996 Apr 24; 62(4):391-7.AJ

Abstract

We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.

Authors+Show Affiliations

Genetic and Teratology Research Center, Cerrahpaşa Medical Faculty, University of Istanbul, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8723070

Citation

Suyugül, Z, et al. "Anophthalmia-Waardenburg Syndrome: a Report of Three Cases." American Journal of Medical Genetics, vol. 62, no. 4, 1996, pp. 391-7.
Suyugül Z, Seven M, Hacihanefioğlu S, et al. Anophthalmia-Waardenburg syndrome: a report of three cases. Am J Med Genet. 1996;62(4):391-7.
Suyugül, Z., Seven, M., Hacihanefioğlu, S., Kartal, A., Suyugül, N., & Cenani, A. (1996). Anophthalmia-Waardenburg syndrome: a report of three cases. American Journal of Medical Genetics, 62(4), 391-7.
Suyugül Z, et al. Anophthalmia-Waardenburg Syndrome: a Report of Three Cases. Am J Med Genet. 1996 Apr 24;62(4):391-7. PubMed PMID: 8723070.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Anophthalmia-Waardenburg syndrome: a report of three cases. AU - Suyugül,Z, AU - Seven,M, AU - Hacihanefioğlu,S, AU - Kartal,A, AU - Suyugül,N, AU - Cenani,A, PY - 1996/4/24/pubmed PY - 2000/6/20/medline PY - 1996/4/24/entrez SP - 391 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 62 IS - 4 N2 - We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8723070/Anophthalmia_Waardenburg_syndrome:_a_report_of_three_cases_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=62&issue=4&spage=391 DB - PRIME DP - Unbound Medicine ER -