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Congenital horizontal gaze palsy and kyphoscoliosis in two brothers.

作者信息

Riley E, Swift M

出版信息

J Med Genet. 1979 Aug;16(4):314-6. doi: 10.1136/jmg.16.4.314.

Abstract

In a sibship of 11, two brothers with a congenital complete horizontal gaze palsy developed severe kyphoscoliosis. No-one else in the family has a gaze palsy or comparable skeletal abnormalities. Since the parents are first cousins, an autosomal recessive mode of inheritance seems likely.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e724/1012677/cf364b7b1862/jmedgene00293-0072-a.jpg

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