Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
Figure 1
Clinical features of the patient with a homozygous mutation p.M540T. (a) presents proband’s hyperpigmented and thickened skin (especially on his truck and thighs) and thin clavicles. (b) depicts patient’s prominent cranium and the loss of hair. (c) demonstrates his small contracted hands with bulbous distal tips.
