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Results 1 - 10 of 10 for HELIX syndrome
  1. T-cell immunodeficiency, congenital alopecia, and nail dystrophy 
    ... with severe functional T-cell immunodeficiency Pignata Guarino syndrome Winged helix deficiency Genetic Testing Registry: T-cell immunodeficiency, congenital ...
    https://medlineplus.gov/...cy-congenital-alopecia-and-nail-dystrophy - Genetics
  2. Cowden syndrome 
    ... L, Eng C. 65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine. Endocr Relat Cancer. ...
    https://medlineplus.gov/genetics/condition/cowden-syndrome - Genetics
  3. Pitt-Hopkins syndrome 
    ... TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  4. RAPADILINO syndrome 
    ... and temporarily unwind the two spiral strands (double helix) of the DNA ... in RAPADILINO syndrome causes the RECQL4 protein to be pieced together ...
    https://medlineplus.gov/genetics/condition/rapadilino-syndrome - Genetics
  5. Baller-Gerold syndrome 
    ... RECQL4 gene cause some cases of Baller-Gerold syndrome. This gene provides ... strands (double helix) of the DNA molecule. This unwinding is necessary ...
    https://medlineplus.gov/genetics/condition/baller-gerold-syndrome - Genetics
  6. Rothmund-Thomson syndrome 
    ... two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary ...
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome - Genetics
  7. Bloom syndrome 
    ... background. ... unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary ...
    https://medlineplus.gov/genetics/condition/bloom-syndrome - Genetics
  8. Warsaw breakage syndrome 
    ... Mutations in the DDX11 gene cause Warsaw breakage syndrome. The DDX11 gene ... strands (double helix) of the DNA molecule. This unwinding is necessary ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  9. Kniest dysplasia 
    ... Small deletions in the type II collagen triple helix produce kniest dysplasia. Am J Med Genet. 1999 ...
    https://medlineplus.gov/genetics/condition/kniest-dysplasia - Genetics
  10. Juvenile myoclonic epilepsy 
    ... receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation. Proc Natl Acad ...
    https://medlineplus.gov/.../condition/juvenile-myoclonic-epilepsy - Genetics