The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D

Figure 1

(a) Pedigree of the DA5D family with segregation analysis. The black symbols represent an affected member, and the arrow indicates the proband. Genotypes are identified by letters and slash, with red representing mutations. (b–f) The parts of phenotypes of the proband. (b) Facial features and contractures of the wrists, elbows, and knees in the proband. The proband had the bilateral distal arthrogryposis (c, d) and the webbing of bilateral fingers (e) and elbows (f).

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