Article
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.
European journal of medical genetics - 1 Apr 2017
Sirchia Fabio, Di Gregorio Eleonora, Restagno Gabriella, Grosso Enrico, Pappi Patrizia, Talarico Flavia, Savin Elisa, Cavalieri Simona, Giorgio Elisa, Mancini Cecilia, Pasini Barbara, Mehta Jodhbir S, Brusco Alfredo
Abstract excerpt
We report on a 58-year old woman with microcephaly, mild dysmorphic features, bilateral keratoconus, digital abnormalities, short stature and mild cognitive delay. Except for keratoconus, the phenotype was suggestive for Feingold syndrome type 2 (FGLDS2, MIM 614326), a rare autosomal dominant disorder described in six patients worldwide, due to the haploinsufficiency of MIR17HG, a micro RNA encoding gene....
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