Article
Novel mutations in geleophysic dysplasia type 1.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000
Porayette Prashob, Fruitman Deborah, Lauzon Julie L, Le Goff Carine, Cormier-Daire Valérie, Sanders Stephen P, Pinto-Rojas Alfredo, Perez-Atayde Antonio R
Abstract excerpt
Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia. Geleophysic dysplasia type 1 (MIM 231050) is autosomal recessive and is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 (a disintegrin and metalloproteinase with thrombosponding repeats-like 2) gene. Geleophysic dysplasia type 2 (MIM 614185) is autosomal dominant and is caused by heterozygous...
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