Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Bibliographic Details
Published in	Genes & diseases Vol. 11; no. 5; p. 101111
Main Authors	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
Format	Journal Article
Language	English
Published	Netherlands Elsevier B.V 01.09.2024 Chongqing Medical University KeAi Communications Co., Ltd
Subjects	Rapid Communication
Online Access	Get full text

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Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors contributed equally to this work.
ISSN:	2352-3042 2352-4820 2352-3042
DOI:	10.1016/j.gendis.2023.101111