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Results 11 - 17 of 17 for Syndromic disease
  1. FOXL2 gene 
    ... Veitia RA. Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of ...
    https://medlineplus.gov/genetics/gene/foxl2 - Genetics
  2. SPTLC1 gene 
    ... I gene SPTLC1 are associated with a distinct syndromic phenotype. Eur J Med Genet. 2013 May;56( ...
    https://medlineplus.gov/genetics/gene/sptlc1 - Genetics
  3. CACNA1C gene 
    ... the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. J Mol ...
    https://medlineplus.gov/genetics/gene/cacna1c - Genetics
  4. CUL3 gene 
    ... Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv [Preprint]. 2023 Jun 16:2023. ... hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. ...
    https://medlineplus.gov/genetics/gene/cul3 - Genetics
  5. POGZ gene 
    ... Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 6;8( ...
    https://medlineplus.gov/genetics/gene/pogz - Genetics
  6. TFAP2B gene 
    ... Day RW, Pober B, State MW, Lifton RP. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations ...
    https://medlineplus.gov/genetics/gene/tfap2b - Genetics
  7. SLC26A4 gene 
    ... Wilcox ER. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998 Mar;18(3): ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
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