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Results 1 - 6 of 6 for Nephronophthisis 12
  1. ... Genetic Testing Registry: Nephronophthisis 11 Genetic Testing Registry: Nephronophthisis 12 Genetic Testing Registry: Nephronophthisis 14 Genetic Testing Registry: ...
  2. ... 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 ...
  3. ... 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 ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 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 ...