Article
Further delineation of the GDF6 related multiple synostoses syndrome.
American journal of medical genetics. Part A - 1 Jan 2018
Terhal Paulien A, Verbeek Nienke E, Knoers Nine, Nievelstein Rutger J A J, van den Ouweland Ans, Sakkers Ralph J, Speleman Lucienne, van Haaften Gijs
Abstract excerpt
A mutation in GDF6 was recently found to underlie a multiple synostoses syndrome. In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. In addition to synostoses of carpal and/or tarsal bones, at least 6 of 10 affected patients in this family have been diagnosed with mild to moderate hearing loss. In four of...
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