A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis

V. Barbaro, P. Nardiello, G. Castaldo, C.E. Willoughby, S. Ferrari, D. Ponzin, F. Amato, E. Bonifazi, M. Parekh, A. Calistri, C. Parolin, E. Di Iorio

    Research output: Contribution to journalArticle

    13 Citations (Scopus)
    LanguageEnglish
    Pages1957-1961
    Number of pages5
    JournalAmerican Journal of Medical Genetics, Part A
    Volume158 A
    Issue number8
    DOIs
    Publication statusPublished - 2012

    Cite this

    Barbaro, V. ; Nardiello, P. ; Castaldo, G. ; Willoughby, C.E. ; Ferrari, S. ; Ponzin, D. ; Amato, F. ; Bonifazi, E. ; Parekh, M. ; Calistri, A. ; Parolin, C. ; Di Iorio, E. / A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 8. pp. 1957-1961.
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    title = "A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis",
    author = "V. Barbaro and P. Nardiello and G. Castaldo and C.E. Willoughby and S. Ferrari and D. Ponzin and F. Amato and E. Bonifazi and M. Parekh and A. Calistri and C. Parolin and {Di Iorio}, E.",
    note = "Cited By :11 Export Date: 6 September 2018",
    year = "2012",
    doi = "10.1002/ajmg.a.35414",
    language = "English",
    volume = "158 A",
    pages = "1957--1961",
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    Barbaro, V, Nardiello, P, Castaldo, G, Willoughby, CE, Ferrari, S, Ponzin, D, Amato, F, Bonifazi, E, Parekh, M, Calistri, A, Parolin, C & Di Iorio, E 2012, 'A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis', American Journal of Medical Genetics, Part A, vol. 158 A, no. 8, pp. 1957-1961. https://doi.org/10.1002/ajmg.a.35414

    A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis. / Barbaro, V.; Nardiello, P.; Castaldo, G.; Willoughby, C.E.; Ferrari, S.; Ponzin, D.; Amato, F.; Bonifazi, E.; Parekh, M.; Calistri, A.; Parolin, C.; Di Iorio, E.

    In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 8, 2012, p. 1957-1961.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis

    AU - Barbaro, V.

    AU - Nardiello, P.

    AU - Castaldo, G.

    AU - Willoughby, C.E.

    AU - Ferrari, S.

    AU - Ponzin, D.

    AU - Amato, F.

    AU - Bonifazi, E.

    AU - Parekh, M.

    AU - Calistri, A.

    AU - Parolin, C.

    AU - Di Iorio, E.

    N1 - Cited By :11 Export Date: 6 September 2018

    PY - 2012

    Y1 - 2012

    U2 - 10.1002/ajmg.a.35414

    DO - 10.1002/ajmg.a.35414

    M3 - Article

    VL - 158 A

    SP - 1957

    EP - 1961

    JO - American Journal of Medical Genetics Part A

    T2 - American Journal of Medical Genetics Part A

    JF - American Journal of Medical Genetics Part A

    SN - 1552-4825

    IS - 8

    ER -