Fig. 1
From: A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
BMPR1B p.Arg31Cys causes a du Pan dysplasia-like phenotype. a Pedigree of the family. The proposita is indicated by an arrow. b Hands and feet of the proposita. Note short, malformed fingers and hypoplastic toes. c Radiographs of the proposita. Ap view of hands at the age of 32 years showing abnormalities of metacarpals and phalangeal bones. Ap view of the knees: note absent fibulae. Radiographs of the lower extremities including feet; ap and lateral view showing abnormalities of tarsal, metatarsal and phalangeal bones. d Sequence chromatograms showing parts of BMPR1B exon 1. The homozygous c.91C>T, p.(Arg31Cys) mutation is indicated by an arrow. Letters below the sequence chromatograms indicate amino acids in single letter code