Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature-Reference-Cited by-同舟云学术

Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature

Published:2017-04-14 Issue:7 Volume:173 Page:1970-1974
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Travan Laura¹,Naviglio Samuele²^ORCID,De Cunto Angela¹,Pellegrin Andrea³,Pecile Vanna⁴,Spinelli Alessandro Mauro⁵,Cappellani Stefania⁴,Faletra Flavio⁴

Affiliation:

1. Department of Perinatal Medicine; Institute for Maternal and Child Health IRCCS Burlo Garofolo; Trieste Italy

2. Department of Medicine, Surgery, and Health Sciences; University of Trieste; Trieste Italy

3. Department of Pediatric Radiology; Institute for Maternal and Child Health IRCCS Burlo Garofolo; Trieste Italy

4. Department of Genetics; Institute for Maternal and Child Health IRCCS Burlo Garofolo; Trieste Italy

5. University of Padua; Padua Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. 19q13.32 microdeletion syndrome: Three new cases;Castillo;European Journal of Medical Genetics,2014

2. PUMA couples the nuclear and cytoplasmic proapoptotic function of p53;Chipuk;Science,2005

3. LMX1B is part of a transcriptional complex with PSPC1 and PSF;Hoekstra;PLoS ONE,2013

4. Neurite outgrowth from PC12 cells by basic fibroblast growth factor (bFGF) is mediated by RhoA inactivation through p190RhoGAP and ARAP3;Jeon;Journal of Cellular Physiology,2010

5. Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features;Leal;European Journal of Medical Genetics,2009

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