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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, a rare condition that mainly affects the development ... and legs. Most of the variants that cause Miller syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/dhodh - Genetics
  2. YWHAE gene 
    ... the short (p) arm of chromosome 17 causes Miller-Dieker syndrome. This region contains numerous genes, including the YWHAE gene. Miller-Dieker syndrome is characterized by intellectual disabilities and developmental delays ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  3. PAFAH1B1 gene 
    ... the short (p) arm of chromosome 17 causes Miller-Dieker syndrome. This region contains numerous genes, including the PAFAH1B1 gene. Signs and symptoms of Miller-Dieker syndrome include lissencephaly, intellectual disabilities, seizures, and distinctive facial ...
    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 
    ... doi: 10.1038/ng0198-81. 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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