Haplotype analysis of a Chilean family and a Taiwanese family with the OSMR mutation p.P694L. (a) Three individuals of the Chilean family, including individuals 82, 80, and individual 252, have the clinical manifestation of PCA and were found to share the same haplotypes. (b) All four individuals of the Taiwanese family had clinical manifestation of PCA. However, only two (individual 7 and individual 10) were found to share the same haplotypes. In individual 11, the paternal allele was marked with 4-AGCC, 25-GGAGA, 21-TGAA, and 30-TC, and the maternal allele was determined to be a recombinant of the two alleles from the mother.