Literature DB >> 8333284

Autosomal dominant inherited oculo-auriculo-vertebral spectrum: report of one family.

F J Tsai1, C H Tsai.   

Abstract

Most cases of oculo-auriculo-vertebral spectrum are sporadic. Here, we report a family in which there are seven affected members spanning three consecutive generations. It supports the pattern of autosomal dominant transmission. It is important to evaluate the first-degree relatives to exclude any facial manifestations, even of minor anomaly, before giving genetic counseling.

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Year:  1993        PMID: 8333284

Source DB:  PubMed          Journal:  Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi        ISSN: 0001-6578


  1 in total

1.  GOLDEN-HAR SYNDROME.

Authors:  V Mathur; R K Mishra
Journal:  Med J Armed Forces India       Date:  2017-06-10
  1 in total

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