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A novel germline mutation of the PTENgene in a patient with macrocephaly, ventricular dilatation, and features of VATER association
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  • Published on:
    Re: Response to: Reardon et al. J Med Genet 2001; 38: 820-823.

    Dear Editor,

    My co-authors and I are grateful to Professor Winter for drawing this point to our attention. The baby was found to have a tracheo-oesophageal fistula and oesophageal atresia which were the subject of surgical correction on day 2 of life. These findings strengthened concerns with respect to VATER association. I regret that the inadvertant omission of these clinical data have led to any confusion an...

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    Conflict of Interest:
    None declared.
  • Published on:
    Response to: Reardon et al. J Med Genet 2001; 38: 820-823.
    • Robin Winter, Professor of Clinical Genetics and dysmorphology

    Dear Editor,

    The single case report of a child with features of VATER association and a PTEN mutation by Reardon et al., (2001) is certainly a significant contribution to the literature. I am going to highlight it prominently in the London Dysmorphology Database (Winter and Baraitser, 2001) (ver. 3 with significant enhancements now available from Oxford University Press). However the case report is somewhat puz...

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    Conflict of Interest:
    None declared.