Literature DB >> 9689999

Branchio-oculo-facial syndrome associated with a white forelock.

A Mégarbané, N Hawat, P Chedid, J Bleik, A L Délézoïde.   

Abstract

We report a father and his daughter with branchio-oculo-facial syndrome. Since birth the father, and to a lesser extent his daughter, demonstrated a white forelock which has not been reported before as associated with this syndrome. The analysis of the second to the eighth exon of PAX3 genes did not reveal any abnormality. The analysis of the EYA1 gene is proposed as well.

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Year:  1998        PMID: 9689999     DOI: 10.1097/00019605-199807000-00013

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


  1 in total

Review 1.  Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.

Authors:  M S Al-Dosari; M Almazyad; L Al-Ebdi; J Y Mohamed; Saad Al-Dahmash; Hassan Al-Dhibi; Eman Al-Kahtani; Shahira Al-Turkmani; Hisham Alkuraya; B D Hall; F S Alkuraya
Journal:  Mol Vis       Date:  2010-05-08       Impact factor: 2.367

  1 in total

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