CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life, and in utero obstruction to urine flow is a frequent cause of secondary upper urinary tract malformations. Here, using whole-exome sequencing, we ident...

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Veröffentlicht in:	American journal of human genetics 2019-12, Vol.105 (6), p.1286-1293
Hauptverfasser:	Mann, Nina, Kause, Franziska, Henze, Erik K., Gharpure, Anant, Shril, Shirlee, Connaughton, Dervla M., Nakayama, Makiko, Klämbt, Verena, Majmundar, Amar J., Wu, Chen-Han W., Kolvenbach, Caroline M., Dai, Rufeng, Chen, Jing, van der Ven, Amelie T., Ityel, Hadas, Tooley, Madeleine J., Kari, Jameela A., Bownass, Lucy, El Desoky, Sherif, De Franco, Elisa, Shalaby, Mohamed, Tasic, Velibor, Bauer, Stuart B., Lee, Richard S., Beckel, Jonathan M., Yu, Weiqun, Mane, Shrikant M., Lifton, Richard P., Reutter, Heiko, Ellard, Sian, Hibbs, Ryan E., Kawate, Toshimitsu, Hildebrandt, Friedhelm
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Autonomic Nervous System Diseases - etiology Autonomic Nervous System Diseases - genetics Autonomic Nervous System Diseases - pathology CAKUT dysautonomia Female Follow-Up Studies genetics Humans kidney Kidney - abnormalities Kidney - pathology Male Mutation neurogenic bladder Pedigree Prognosis Receptors, Nicotinic - genetics Urinary Tract - abnormalities Urinary Tract - pathology Urogenital Abnormalities - etiology Urogenital Abnormalities - genetics Urogenital Abnormalities - pathology Young Adult
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