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Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion.

作者信息

Montgomery T L, Wyllie J, Oley C

机构信息

Department of Clinical Genetics, Northern Genetics Service, Newcastle Upon Tyne, UK.

出版信息

Clin Dysmorphol. 2000 Oct;9(4):235-9. doi: 10.1097/00019605-200009040-00001.

DOI:10.1097/00019605-200009040-00001
PMID:11045577
Abstract

An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2) deletion is presented. Glaucoma and ectrodactyly in association with a 7q deletion has not been previously reported. We recommend that early ophthalmological assessment is required in infants with such deletions.

摘要

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