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Results 1 - 10 of 12 for Lowe syndrome
  1. Lowe syndrome 
    Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.Infants with Lowe syndrome ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  2. OCRL gene 
    ... disease 2 to be a mild variant of Lowe syndrome, which is discussed below.The OCRL gene mutations ... OCRL gene have been identified in individuals with Lowe syndrome, a condition that affects the eyes, brain, and ...
    https://medlineplus.gov/genetics/gene/ocrl - Genetics
  3. Dent disease 
    ... a mild variant of a similar disorder called Lowe syndrome. Dent disease is a rare condition, with about ... M, Salomon R, Satre V, Lunardi J. From Lowe syndrome to Dent disease: correlations between mutations of the ...
    https://medlineplus.gov/genetics/condition/dent-disease - Genetics
  4. Recombinant 8 syndrome 
    ... PubMed Central Oren MS, Camacho JE, Xie H, Lowe J, Cushing T, Clericuzio C, Maxwell JR. Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome. Clin Case Rep. 2019 Mar 25;7(5): ...
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  5. ANK2 gene 
    ... PubMed Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes ...
    https://medlineplus.gov/genetics/gene/ank2 - Genetics
  6. Ankyrin-B syndrome 
    ... Central Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes ...
    https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome - Genetics
  7. 7q11.23 duplication syndrome 
    ... Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, ... syndrome region, are strongly associated with autism. Neuron. 2011 ...
    https://medlineplus.gov/.../condition/7q1123-duplication-syndrome - Genetics
  8. CHD2 gene 
    ... Condition MedlinePlus Genetics provides information about Lennox-Gastaut syndrome More ... M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis ...
    https://medlineplus.gov/genetics/gene/chd2 - Genetics
  9. COG5-congenital disorder of glycosylation 
    ... and symptoms of the condition. Carbohydrate deficient ... Miller VJ, Sharma P, Kudlyk TA, Frost L, Rofe AP, Watson IJ, Duden R, Lowe M, Lupashin VV, Ungar D. Molecular insights into ...
    https://medlineplus.gov/...cog5-congenital-disorder-of-glycosylation - Genetics
  10. Congenital hepatic fibrosis 
    ... article on PubMed Central Ling SC. Congenital cholestatic ... L, Moore CA, Lowe LH. Fibropolycystic liver disease in children. Pediatr Radiol. ...
    https://medlineplus.gov/.../condition/congenital-hepatic-fibrosis - Genetics
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