Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c.992T&gt;G (p.L331R) in exon 11 and c.1094G&gt;A (p.R365Q) in exon 13 of the gene.
C0016395
Focal Dermal Hypoplasia