Condition: REVESZ SYNDROME (disorder)


rs121918544 in TINF2 gene and REVESZ SYNDROME (disorder) PMID 18252230 2008 Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation.