Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

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 
    ... 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
previous · 1 · 2 · 3 · next