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Nephronophthisis 12
- ... Genetic Testing Registry: Nephronophthisis 11 Genetic Testing Registry: Nephronophthisis 12 Genetic Testing Registry: Nephronophthisis 14 Genetic Testing Registry: ...
- ... of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.Nephronophthisis causes fluid-filled cysts to develop in the ...
- ... eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as the presence ... JOUBERT SYNDROME 22; JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 14; JBTS14 PubMed Brancati ...
- ... of other problems, including a kidney condition called nephronophthisis and eye abnormalities.The WDR19 gene mutations involved ... This Health Condition MedlinePlus Genetics provides information about Nephronophthisis More About This Health Condition MedlinePlus Genetics provides ...
- ... in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and ... A, Keppler-Noreuil K. Cranioectodermal Dysplasia. 2013 Sep 12 [updated 2022 Dec 15]. In: Adam MP, Feldman ...
- ... A, Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac ... j.ajhg.2012.03.006. Epub 2012 Apr 12. Citation on PubMed or Free article on PubMed ...