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Results 1 - 10 of 56 for frame syndrome
  1. Weill-Marchesani syndrome 
    ... Boileau C, Munnich A, Cormier-Daire V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan;40(1):34- ...
    https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome - Genetics
  2. FBN1 gene 
    ... Boileau C, Munnich A, Cormier-Daire V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan;40(1):34- ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  3. SKI gene 
    ... Boileau C, De Paepe A, Faivre L. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet. 2012 Nov 2;91( ...
    https://medlineplus.gov/genetics/gene/ski - Genetics
  4. Shprintzen-Goldberg syndrome 
    ... Boileau C, De Paepe A, Faivre L. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet. 2012 Nov 2;91( ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  5. Mayer-Rokitansky-Küster-Hauser syndrome 
    ... Barresi G, Schomburg J, Rall K, Wieacker P. Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Hum Reprod. 2012 Sep;27(9):2872-5. ...
    https://medlineplus.gov/.../mayer-rokitansky-kuster-hauser-syndrome - Genetics
  6. COL4A4 gene 
    ... Weber M. Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. Nephrol Dial Transplant. 2003 Jun;18(6):1122- ...
    https://medlineplus.gov/genetics/gene/col4a4 - Genetics
  7. TWNK gene 
    ... limbs (peripheral neuropathy). C10orf2 chromosome 10 open reading frame 2 ... DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; TWNK ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  8. Renpenning syndrome 
    ... mentally retarded patients: a pathogenic mutation and in-frame deletions of ... of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A. 2011 ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  9. PQBP1 gene 
    ... mentally retarded patients: a pathogenic mutation and in-frame deletions of ... of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A. 2011 ...
    https://medlineplus.gov/genetics/gene/pqbp1 - Genetics
  10. SRY gene 
    ... Gomori E, Mammel M, Kosztolanyi G. A novel frame shift mutation in the HMG box ... TF, Conway GS. Swyer syndrome. Curr Opin Endocrinol Diabetes Obes. 2014 Dec;21( ...
    https://medlineplus.gov/genetics/gene/sry - Genetics
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