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Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.

Authors :
Cappuccio, G.
Ginocchio, V.M.
Maffè, A.
Ungari, S.
Andria, G.
Melis, D.
Source :
Clinical Genetics; Feb2014, Vol. 85 Issue 2, p201-202, 2p
Publication Year :
2014

Abstract

A letter to the editor is presented regarding splice-site mutations in CHD7 gene in two patients with CHARGE syndrome (CS) phenotype.

Details

Language :
English
ISSN :
00099163
Volume :
85
Issue :
2
Database :
Complementary Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
93630380
Full Text :
https://doi.org/10.1111/cge.12115