A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1-Reference-Cited by-同舟云学术

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

Published:2019-12-27 Issue:3 Volume:182 Page:508-512
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Giuffrida Maria G.¹,Mastromoro Gioia²,Guida Valentina¹,Truglio Mauro³,Fabbretti Maria¹,Torres Barbara¹,Mazza Tommaso³,De Luca Alessandro¹^ORCID,Roggini Mario⁴,Bernardini Laura¹^ORCID,Pizzuti Antonio¹²

Affiliation:

1. Medical Genetics UnitCasa Sollievo della Sofferenza IRCCS Foundation San Giovanni Rotondo Italy

2. Department of Experimental MedicineSapienza University, Policlinico Umberto I Hospital Rome Italy

3. Bioinformatics UnitCasa Sollievo della Sofferenza IRCCS Foundation San Giovanni Rotondo Italy

4. Pediatrics and Child Neuropsychiatry DepartmentPoliclinico Umberto I, Sapienza University Rome Italy

Funder

Italian Ministry of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61431

Reference13 articles.

1. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures

2. AKAP7γ is a nuclear RI-binding AKAP

3. Carbone A. Bernardini L. Valenzano F. Bottillo I. desimone C. Capizzi R. …Amerio P.(2008).Array‐based comparative genomic hybridization in early‐stage mycosis fungoides: Recurrent deletion of tumor suppressor genes BCL7A SMAC/DIABLO and RHOF 47 1067–1075.

4. Novel α‐actin gene mutation p.(Ala21Val) causing familial hypertrophic cardiomyopathy, myocardial noncompaction, and transmural crypts. Clinical‐pathologic correlation;Frustaci A.;Journal of the American Heart Association,2018

5. Identification of novel candidate disease genes from de novo exonic copy number variants

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