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Pedigree and sequencing result. A. Pedigree of the family: the filled box represents the affected child, open box or circle with a dot, the heterozygote parents. B. Homozygous mutation c.658T > G (p.C220G) of ECM1 exon 6 of the patient. C. Heterozygous mutation of the same position of his parent. D. Normal DNA sequence of ECM1 exon 6.
