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Results 1 - 10 of 30 for Miller syndrome
  1. DHODH gene 
    ... the DHODH gene have been found to cause Miller syndrome. Most of these mutations change single protein building ... mutations lead to the signs and symptoms of Miller syndrome. More About This Health Condition DHOdehase dihydroorotate dehydrogenase ...
    https://medlineplus.gov/genetics/gene/dhodh - Genetics
  2. YWHAE gene 
    ... brain development. The characteristic signs and symptoms of Miller-Dieker syndrome are caused by a deletion of genetic material ... the brain is abnormally smooth) in people with Miller-Dieker syndrome. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  3. PAFAH1B1 gene 
    ... chromosome 17, that includes the PAFAH1B1 gene, causes Miller-Dieker syndrome. This condition causes lissencephaly, intellectual disability, seizures, distinctive ...
    https://medlineplus.gov/genetics/gene/pafah1b1 - Genetics
  4. AVPR2 gene 
    ... Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE. Nephrogenic syndrome of inappropriate antidiuresis. N Engl J Med. 2005 ...
    https://medlineplus.gov/genetics/gene/avpr2 - Genetics
  5. POR gene 
    ... Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar;36(3):228-30. ...
    https://medlineplus.gov/genetics/gene/por - Genetics
  6. SLC52A3 gene 
    ... Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  7. TNXB gene 
    ... Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
  8. NOTCH2 gene 
    ... Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, Mannstadt M. Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. Osteoporos Int. 2013 Aug;24(8):2275-81. ...
    https://medlineplus.gov/genetics/gene/notch2 - Genetics
  9. SALL1 gene 
    ... nlm.nih.gov/books/NBK1445/ Citation on PubMed Miller EM, Hopkin R, Bao L, Ware SM. Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and ...
    https://medlineplus.gov/genetics/gene/sall1 - Genetics
  10. RECQL4 gene 
    ... on PubMed Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. 1999 May;22(1):82-4. ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
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