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Results 1 - 10 of 24 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. PTEN gene 
    ... 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/gene/pten - Genetics
  3. 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
  4. TCF4 gene 
    ... 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/gene/tcf4 - Genetics
  5. 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
  6. TWIST1 gene 
    ... Transcription factor TWIST TWIST twist basic helix-loop-helix transcription factor 1 Twist Homolog twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) twist homolog 1 (Drosophila) TWST1_HUMAN Tests ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  7. ORC6 gene 
    ... E, Botchan MR, Berger JM. A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation. Elife. ...
    https://medlineplus.gov/genetics/gene/orc6 - Genetics
  8. CXCR4 gene 
    ... NPYR NPYRL NPYY3R SDF-1 receptor seven transmembrane helix receptor seven-transmembrane-segment receptor, spleen stromal cell-derived factor 1 receptor Tests of CXCR4 PubMed CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4 WHIM SYNDROME 1; WHIMS1 NCBI Gene ClinVar Cao Y, Hunter ...
    https://medlineplus.gov/genetics/gene/cxcr4 - Genetics
  9. 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
  10. COL2A1 gene 
    ... MP. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Am J Hum Genet. 2000 Nov;67(5): ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
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