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Results 1 - 10 of 16 for Fraser syndrome 2
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  1. GRIP1 gene 
    ... the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat Genet. 2004 Feb;36(2):172-7. doi: 10.1038/ng1292. Epub 2004 Jan 18. Citation on PubMed Vogel MJ, van Zon P, Brueton L, ... MM. Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 2012 May;49(5):303- ...
    https://medlineplus.gov/genetics/gene/grip1 - Genetics
  2. Branchiootorenal/branchiootic syndrome 
    ... Branchiootorenal dysplasia Branchiootorenal spectrum disorders Branchiootorenal syndrome Melnick-Fraser syndrome Genetic Testing Registry: Branchiootic syndrome 3 Genetic Testing Registry: Branchiootorenal syndrome 2 Genetic Testing Registry: Branchiootic syndrome 1 Genetic Testing ...
    https://medlineplus.gov/.../branchiootorenal-branchiootic-syndrome - Genetics
  3. FREM2 gene 
    ... kidneys, although the mechanism is unclear. At least two mutations in the FREM2 gene have been found to cause Fraser syndrome; these mutations are involved in a small percentage ...
    https://medlineplus.gov/genetics/gene/frem2 - Genetics
  4. Fraser syndrome 
    ... Wainwright B, Woolf AS, Winter RM, Scambler PJ. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142. Citation on ...
    https://medlineplus.gov/genetics/condition/fraser-syndrome - Genetics
  5. Clouston syndrome 
    ... ddh191. Epub 2004 Jun 22. Citation on PubMed Fraser FC, Der Kaloustian VM. A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED). Am J Med Genet. 2001 Apr 22;100(2):164-8. doi: 10.1002/1096-8628(20010422) ...
    https://medlineplus.gov/genetics/condition/clouston-syndrome - Genetics
  6. CYP11B2 gene 
    ... 2008 May 29. Citation on PubMed Connell JM, Fraser R, MacKenzie ... Fardella C. Genetics of hypertensive syndrome. Horm Res. 2009;71(5):253-9. doi: ...
    https://medlineplus.gov/genetics/gene/cyp11b2 - Genetics
  7. GJB6 gene 
    ... Shimomura Y. GJB6, of which mutations underlie Clouston syndrome, is a ... Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA. Clouston hidrotic ...
    https://medlineplus.gov/genetics/gene/gjb6 - Genetics
  8. Congenital anomalies of kidney and urinary tract 
    ... deletion syndrome, renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome ... is involved in 17q12 deletion syndrome and RCAD syndrome. These two genes play critical roles in the formation of ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  9. Axenfeld-Rieger syndrome 
    ... syndrome type 1 Genetic Testing Registry: Axenfeld-Rieger syndrome type 2 Genetic Testing Registry: Axenfeld-Rieger syndrome type 3 ... for Rare Disorders (NORD) ClinicalTrials.gov AXENFELD-RIEGER SYNDROME, TYPE 2; RIEG2 AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 AXENFELD- ...
    https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome - Genetics
  10. X chromosome 
    ... cases, individuals with microphthalmia with linear skin defects syndrome have two X chromosomes but have sex characteristics that are ... of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
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