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Results 1 - 10 of 10 for Gorlin syndrome
  1. ORC1 gene 
    ... bone. Mutations in the ORC1 gene cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, ... a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the ...
    https://medlineplus.gov/genetics/gene/orc1 - Genetics
  2. PTCH1 gene 
    ... the PTCH1 gene have been found to cause Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome), ... to form the tumors that are characteristic of Gorlin syndrome. It is less clear how PTCH1 gene mutations ...
    https://medlineplus.gov/genetics/gene/ptch1 - Genetics
  3. CDC6 gene 
    ... one mutation in the CDC6 gene causes Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, ... a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the ...
    https://medlineplus.gov/genetics/gene/cdc6 - Genetics
  4. ORC6 gene 
    ... ORC6 gene have been found to cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, ... a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the ...
    https://medlineplus.gov/genetics/gene/orc6 - Genetics
  5. ORC4 gene 
    ... heterochromatin. Mutations in the ORC4 gene cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, ... a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the ...
    https://medlineplus.gov/genetics/gene/orc4 - Genetics
  6. CDT1 gene 
    ... divide. Mutations in the CDT1 gene cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, ... a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the ...
    https://medlineplus.gov/genetics/gene/cdt1 - Genetics
  7. SLC25A24 gene 
    ... the SLC25A24 gene have been found to cause Gorlin-Chaudhry-Moss syndrome. This condition, which has been found only in ... of the labia majora).The mutations that cause Gorlin-Chaudhry-Moss syndrome change a single protein building block (amino acid) ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics
  8. BCOR gene 
    ... Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. ...
    https://medlineplus.gov/genetics/gene/bcor - Genetics
  9. FBN1 gene 
    ... or Free article on PubMed Central Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, 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
  10. FLNA gene 
    ... Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. Eur J Hum Genet. 2006 May;14(5):549-54. doi: 10.1038/sj.ejhg.5201586. Citation on PubMed Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava ...
    https://medlineplus.gov/genetics/gene/flna - Genetics