Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
Titel:
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
Auteur:
Deutsch, Konstantin Klämbt, Verena Kitzler, Thomas M. Jobst-Schwan, Tilman Schneider, Ronen Buerger, Florian Seltzsam, Steve El Desoky, Sherif Kari, Jameela A. Hafeez, Farkhanda Szczepańska, Maria Eid, Loai A. Awad, Hazem S. Al-Saffar, Muna Soliman, Neveen A. Tasic, Velibor Nicolas-Frank, Camille Yousef, Kirollos Schierbaum, Luca M. Schneider, Sophia Halawi, Abdul Elmubarak, Izzeldin Lemberg, Katharina Shril, Shirlee Mane, Shrikant M. Rodig, Nancy Hildebrandt, Friedhelm