Fig. 3
From: Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
Radiographic image and molecular analysis of patient K9 with acromesomelic dysplasia Maroteaux-type. a Lower extremities X-rays demonstrated a short tibia and fibula, with no missing or fused bones; b phalanges of the hands were short and broad with cone-shaped epiphyses, especially in the 4th proximal phalange marked by yellow arrows; c Sanger sequencing confirmed a missense mutation, c.2326C>T (p.A776W) (NM_003995.3), in the kinase homology domain of the NPR2 gene in the proband and her father. The A776 residue is conserved among species (dark square box). Sequences were aligned using blastp [https://blast.ncbi.nlm.nih.gov/]