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a Intragenic BMP4 mutations and affected pedigrees; mutation sites indicated with arrows. b Multiple sequence alignment of BMP4 amino acid sequences demonstrating conservation of the histidine affected in the identified H121R mutation. Shaded areas indicate conserved amino acids. GenBank accession numbers are as follows: Homo sapiens NP_570911.2, Mus musculus AAH34053, Danio rerio AAH78423, Gallus gallus NP_990568
