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Results 1 - 10 of 18 for Autosomal dominant robinson syndrome 1
  1. FBN1 gene 
    ... Munnich A, Cormier-Daire V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1. ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  2. Shprintzen-Goldberg syndrome 
    ... Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di ... dominant Shprintzen-Goldberg syndrome. Am J Hum Genet. 2012 Nov 2;91( ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  3. Marfan syndrome 
    ... gene can reduce the amount of functional fibrillin-1 that is available to form microfibrils, which leads to ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics
  4. ALDH18A1 gene 
    ... loss of function effect and plausibility of a dominant negative mechanism. Brain. ... heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  5. Isolated ectopia lentis 
    ... isolated, autosomal recessive Genetic Testing Registry: Ectopia lentis 1, isolated, autosomal dominant Isolated ectopia lentis National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis - Genetics
  6. Multiple endocrine neoplasia 
    ... tissues. CDKN1B MEN1 RET Multiple endocrine neoplasia type 1 usually has an autosomal dominant pattern of inheritance. People with this condition are ...
    https://medlineplus.gov/.../condition/multiple-endocrine-neoplasia - Genetics
  7. Recombinant 8 syndrome 
    ... symptoms of this condition. chromosome 8 Recombinant 8 syndrome is inherited in an autosomal dominant pattern, which means one copy of the recombinant ...
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  8. Liebenberg syndrome 
    ... to the features of Liebenberg syndrome. PITX1 Liebenberg syndrome is inherited in an autosomal dominant pattern, which means having a genetic change that ...
    https://medlineplus.gov/genetics/condition/liebenberg-syndrome - Genetics
  9. SOX2 anophthalmia syndrome 
    ... symptoms of SOX2 anophthalmia syndrome. SOX2 SOX2 anophthalmia syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../condition/sox2-anophthalmia-syndrome - Genetics
  10. Lynch syndrome 
    ... cancerous tumors. EPCAM MLH1 MSH2 MSH6 PMS2 Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the ...
    https://medlineplus.gov/genetics/condition/lynch-syndrome - Genetics
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