A novel de novo missense mutation inTP63underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis-Reference-Cited by-同舟云学术

A novel de novo missense mutation inTP63underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis

Published:2012-06-27 Issue:8 Volume:158A Page:1957-1961
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barbaro Vanessa,Nardiello Paola,Castaldo Giuseppe,Willoughby Colin E.,Ferrari Stefano,Ponzin Diego,Amato Felice,Bonifazi Ernesto,Parekh Mohit,Calistri Arianna,Parolin Cristina,Di Iorio Enzo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35414/fullpdf

Reference20 articles.

1. Development of an allele specific Real Time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome;Barbaro;J Mol Diagn,2012

2. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts;Barrow;J Med Genet,2002

3. EEC syndrome in two sisters with healthy parents;Bonifazi;Eur J Pediat Dermatol,2008

4. The p63 gene in EEC and other syndromes;Brunner;J Med Genet,2002

5. Twenty-four cases of the EEC syndrome: Clinical presentation and management;Buss;J Med Genet,1995

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1. Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes;Journal of Clinical Medicine;2023-11-28

2. Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies;The Ocular Surface;2023-07

3. TP63 mutation mapping information in TP63 mutation-associated syndromes;Advances in Oral and Maxillofacial Surgery;2022-01

4. Molecular Genetics and Prenatal Diagnosis;Genetic Disorders and the Fetus;2021-04-20

5. Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene;Balkan Journal of Medical Genetics;2020-06-01