Whole exome sequencing identifies a novel mutation in ADCY5 in a patient with developmental delay and dystonia

ÇAVDARLI B., ESEN N., TOPÇU V., AKSOY A., DANIŞ A., ANLAR F. B.

51st European Society of Human Genetics Conference, Milan, Italy, 16 June 2018, (Summary Text)

• Publication Type: Conference Paper / Summary Text
• Doi Number: 10.1038/s41431-019-0404-7
• City: Milan
• Country: Italy
• Ankara Yıldırım Beyazıt University Affiliated: Yes