Literature DB >> 11446419

Adams-Oliver syndrome: further evidence for autosomal recessive inheritance.

B Unay, S U Sarici, D Gül, R Akin, E Gökçay.   

Abstract

We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects.

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Year:  2001        PMID: 11446419     DOI: 10.1097/00019605-200107000-00014

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

1.  RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

Authors:  Susan J Hassed; Graham B Wiley; Shaofeng Wang; Ji-Yun Lee; Shibo Li; Weihong Xu; Zhizhuang J Zhao; John J Mulvihill; James Robertson; James Warner; Patrick M Gaffney
Journal:  Am J Hum Genet       Date:  2012-08-10       Impact factor: 11.025

  1 in total

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