Fig. 1

X-ray imaging, BMD of the proband, and molecular modeling of the mutant β3. (A) X-ray imagine of the proband’s right hand. The X - ray image of the proband’s right hand reveals that the proband was born with partial absence of the phalanges in digits 2–4, as well as deformities in digits 1 and 5. (B) Radial BMD Scan of the Proband’s Right Forearm. Schematic representation of the radial BMD scan of the right forearm of the proband indicated a significantly lower radial BMD, suggesting significant osteopenia and increased risk of fracture. (C) Molecular modeling analysis of the mutant β3. The mutation results in the substitution of lysine with leucine at the 715th amino acid position of β3, followed by premature termination at the 750th amino acid. This truncation leads to the loss of the cytoplasmic domains (residues 742–788), ultimately causing inactivation and reduced expression of the β3/αIIbβ3