Condition: Geleophysic dysplasia
rs1131691804 in
FBN1 gene and
Geleophysic dysplasia
PMID 27245183 2016 Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.