Search

Your search keyword '"Cebeci, Ayşe Nurcan"' showing total 1 results
Start Over Author "Cebeci, Ayşe Nurcan" Journal anatolian journal of cardiology / anadolu kardiyoloji dergisi
1 results on '"Cebeci, Ayşe Nurcan"'

1. A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome.

Author

Kaymakçalan, Hande, Ercan-Şençiçek, A. Gülhan, Cebeci, Ayşe Nurcan, Dong, Weilai, and Yalçın, Ali Seyfi Yalım

Subjects
TETRALOGY of Fallot, PULMONARY atresia, ETIOLOGY of diseases, ATRIAL septal defects, SYNDROMES, CONGENITAL heart disease
Abstract

A case study of a 17-year-old Turkish boy with Tetralogy of Fallot (TOF) and pulmonary atresia, intellectual deficiency (ID), short stature, microcephaly and dysmorphic features. Topics include frameshift mutation at the gene, polyglutamine-binding protein 1 which leads to Renpenning syndrome; and report of pulmonary atresia together with TOF in Renpenning syndrome.

Published
2022
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results