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Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.
Ophthalmic Genet. 2004 Dec; 25(4):277-83.OG

Abstract

A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family manifests a previously undescribed syndrome due to autosomal dominant or possibly x-linked inheritance with variable expression.

Authors+Show Affiliations

Manchester Royal Eye Hospital, Manchester. shauna.quinn@cmmc.nhs.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15621880

Citation

Quinn, S M., et al. "Autosomal Dominant Brachydactyly, Coloboma and Anterior Segment Dysgenesis." Ophthalmic Genetics, vol. 25, no. 4, 2004, pp. 277-83.
Quinn SM, Black GC, Biswas S, et al. Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. Ophthalmic Genet. 2004;25(4):277-83.
Quinn, S. M., Black, G. C., Biswas, S., Clayton-Smith, J., & Lloyd, I. C. (2004). Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. Ophthalmic Genetics, 25(4), 277-83.
Quinn SM, et al. Autosomal Dominant Brachydactyly, Coloboma and Anterior Segment Dysgenesis. Ophthalmic Genet. 2004;25(4):277-83. PubMed PMID: 15621880.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. AU - Quinn,S M, AU - Black,G C M, AU - Biswas,S, AU - Clayton-Smith,J, AU - Lloyd,I C, PY - 2004/12/29/pubmed PY - 2005/3/18/medline PY - 2004/12/29/entrez SP - 277 EP - 83 JF - Ophthalmic genetics JO - Ophthalmic Genet VL - 25 IS - 4 N2 - A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family manifests a previously undescribed syndrome due to autosomal dominant or possibly x-linked inheritance with variable expression. SN - 1381-6810 UR - https://wwww.unboundmedicine.com/medline/citation/15621880/Autosomal_dominant_brachydactyly_coloboma_and_anterior_segment_dysgenesis_ L2 - https://www.tandfonline.com/doi/full/10.1080/13816810490902684 DB - PRIME DP - Unbound Medicine ER -