Case Report
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes
Figure 2
(a) Pedigree of P2 with his unaffected father and mother |
(b) Photograph at the age of 4 years |
(c) Growth chart in P2 |
(d) Bone age in P2 |
(e) Heterozygous FBN1 mutation c.5243G>C (p.Cys1748Ser) in exon 43 in P2, mother (M), and father (F) |