- ... click here . National Library of Medicine Genetics Home Reference Nephronophthisis American Kidney Fund 11921 Rockville Pike Suite 300 ... of Nephronophthisis Additional genes less commonly associated with nephronophthisis (see Table 2b ): ANKS6 CEP83 ... WDR19 ZNF423 References Literature Cited Adams M, Simms RJ, Abdelhamed Z, ...
- ... 14; NPHP14 NEPHRONOPHTHISIS 18; NPHP18 NEPHRONOPHTHISIS 12; NPHP12 NEPHRONOPHTHISIS 9; NPHP9 Scientific Articles on PubMed PubMed References Benzing T, Schermer B. Clinical spectrum and pathogenesis ...
- ... JOUBERT SYNDROME 22; JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 14; JBTS14 Scientific Articles on PubMed PubMed References Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome ...
- ... Gene JBTS4 juvenile nephronophthisis 1 protein nephrocystin-1 nephronophthisis 1 (juvenile) NPH1 SLSN1 ... References Fliegauf M, Horvath J, von Schnakenburg C, Olbrich ...
- ... SYNDROME 7; SLSN7 Scientific Articles on PubMed PubMed References Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM. Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 ...
- ... Fibronectin glomerulopathy: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
- ... type 1: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
- ... in individuals of Cree and/or Ojibway descent. ... M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and ...
- ... Asphyxiating thoracic dystrophy More About This Health Condition Nephronophthisis MedlinePlus Genetics provides information about Nephronophthisis More About ...
- ... WITHOUT POLYDACTYLY; SRTD9 Scientific Articles on PubMed ... syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac ...
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