Novel mutations in geleophysic dysplasia type 1.
Porayette P, Fruitman D, Lauzon JL, Le Goff C, Cormier-Daire V, Sanders SP, Pinto-Rojas A, Perez-Atayde AR.
Porayette P, et al.
Pediatr Dev Pathol. 2014 May-Jun;17(3):209-16. doi: 10.2350/13-08-1370-CR.1. Epub 2013 Nov 19.
Pediatr Dev Pathol. 2014.
PMID: 24251637
Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia. ...This child with these 2 novel mutations also had an aggressive clinical course with early-onset progressive cardiac valvular disease....
Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia. ...This child with these 2 novel m …