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. 2015 Mar 10;24(12):3399–3409. doi: 10.1093/hmg/ddv088

Figure 1.

Figure 1.

Phenotyping of proband and pedigree of patients with AD omodysplasia. Proband at 10 (A) and 25 years of age (B) presenting with skeletal dysplasia and craniofacial phenotypes. The proband's parents and her daughter, represented in the pedigree in (C), provided specimens for exome sequencing.