2. Academic Validation
  3. TP63 gene mutation in ADULT syndrome

TP63 gene mutation in ADULT syndrome

  • Eur J Hum Genet. 2001 Aug;9(8):642-5. doi: 10.1038/sj.ejhg.5200676.
J Amiel 1,  G Bougeard,  C Francannet,  V Raclin,  A Munnich,  S Lyonnet,  T Frebourg
Affiliations

Affiliation

  • 1 Département de Génétique, et Unité INSERM U-393, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France. [email protected]
PMID: 11528512 DOI: 10.1038/sj.ejhg.5200676
Abstract

TP63 gene mutations have recently been shown to be disease causing in EEC and SHFM. Two other overlapping syndromes with ectrodactyly as a major feature, have been mapped to chromosome 3q27 close by the TP63 locus, namely the LMS and ADULT syndromes. Here, we report on a missense TP63 gene mutation in an isolated ADULT syndrome case. This finding widens the spectrum of abnormalities to be ascribed to TP63 gene in human and emphasise on the variable roles of the different Tp63 isotypes.

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