A novelMED12mutation: Evidence for a fourth phenotype-Reference-Cited by-同舟云学术

A novelMED12mutation: Evidence for a fourth phenotype

Published:2016-06-17 Issue:9 Volume:170 Page:2377-2382
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Prontera Paolo¹,Ottaviani Valentina²,Rogaia Daniela¹,Isidori Ilenia¹,Mencarelli Amedea¹,Malerba Natascia²,Cocciadiferro Dario²³,Rolph Pfundt⁴,Stangoni Gabriela¹,Vulto-van Silfhout Anneke⁴,Merla Giuseppe²

Affiliation:

1. Medical Genetics Unit; Hospital “Santa Maria della Misericordia”; Perugia Italy

2. Medical Genetics Unit; IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo; Foggia Italy

3. Ph.D. Program in Experimental and Regenerative Medicine; University of Foggia; Foggia Italy

4. Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences; Radboud University Nijmegen Medical Centre; Nijmegen The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference27 articles.

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2. Nonsyndromic X-linked intellectual deficiency in three brothers with a novelMED12 missense mutation [c.5922G>T (p.Glu1974His)];Bouazzi;Clin Case Rep,2015

3. Prediction of human mRNA donor and acceptor sites from the DNA sequence;Brunak;J Mol Biol,1991

4. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability;Callier;Clin Genet,2013

5. FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother;Cavani;Am J Med Genet,2011

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