the whole exome sequencing of a child with Witteveen-Kolk syndrome
A de novo heterozygous frameshift variant in SIN3A (chr15:75722702-75722703): NM_015477: c.16(exon2) _c.17(exon2)insG; p.D6fs*2(p. Asp6fsTer2) was identified in a child with Witteveen-Kolk syndrome by the whole exome sequencing