Scientific Publication 

Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome)

Author(s): Rolfs, Prof. Arndt, MD, Trujillano, Daniel, PhD, Hekim, Prof. Nezih, PhD, Batyraliev, Prof. Talantbek, MD, Wang, Prof. Wei, PhD, Dandara, Collet, PhD, Karben, Prof. Zarema, MD, Saygılı, Eyüp Ilker, PhD, Cetin, Prof. Zafer, PhD, Mihcioglu, Deniz, Türkmen, Prof. Serdar, MD, Ali İkidağ, Mehmet, PhD, Ali Cüce, Mehmet

We report the results of the first whole exome sequencing (WES) of an ALCAPA patient who has been followed for 8 years. Read more!

Anomalous origin of left coronary artery from pulmonary artery (ALCAPA), also known as the Bland-White-Garland syndrome, is a rare congenital abnormality, with an incidence of 1 in 300,000 live births. Herein we report the results of the first whole exome sequencing (WES) of an ALCAPA patient who has been followed for 8 years; his clinical course was described previously elsewhere (Türkmen et al., 2014).


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