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

doi: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

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 journal › Article › peer-review

16 Citations (Scopus)

Original language	English
Pages (from-to)	1957-1961
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	158 A
Issue number	8
DOIs	https://doi.org/10.1002/ajmg.a.35414
Publication status	Published (in print/issue) - 2012

Bibliographical note

Cited By :11

Export Date: 6 September 2018

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1002/ajmg.a.35414

https://www.scopus.com/inward/record.uri?eid=2-s2.0-84864123606&doi=10.1002%2fajmg.a.35414&partnerID=40&md5=78180e3955b9bac46b78445c03b17fea

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. (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, 158 A(8), 1957-1961. https://doi.org/10.1002/ajmg.a.35414

@article{fd482791c18545c093941286f9b446ad,

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",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4833",

publisher = "John Wiley & Sons, Inc.",

number = "8",

}

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

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

SN - 1552-4833

SN - 1552-4825

VL - 158 A

SP - 1957

EP - 1961

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 8

ER -