Article
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Nature genetics - 27 Feb 2011
Guernsey Duane L, Matsuoka Makoto, Jiang Haiyan, Evans Susan, Macgillivray Christine, Nightingale Mathew, Perry Scott, Ferguson Meghan, LeBlanc Marissa, Paquette Jean, Patry Lysanne, Rideout Andrea L, Thomas Aidan, Orr Andrew, McMaster Chris R, Michaud Jacques L, Deal Cheri, Langlois Sylvie, Superneau Duane W, Parkash Sandhya, Ludman Mark, Skidmore David L, Samuels Mark E
Abstract excerpt
Meier-Gorlin syndrome is a rare autosomal recessive genetic condition whose primary clinical hallmarks include small stature, small external ears and small or absent patellae. Using marker-assisted mapping in multiple families from a founder population and traditional coding exon sequencing of positional candidate genes, we identified three different mutations in the gene encoding ORC4, a component of the...
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