Skip to main content
Figure 1 | BMC Medical Genetics

Figure 1

From: Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

Figure 1

Pedigrees, RSPO4 genotypes and phenotypes from three families segregating hyponychia. Haplotypes of chromosome 20p13 markers are shown in the pedigrees below each symbol with the relative position of the RSPO4 missense variants, respectively. (a) Family 1 comprises five affected individuals. Middle: Electropherogram showing the novel missense mutation c.178C>T (p.R60W). Right: Hands and feet of individual V:3. (b) Family 2 with six affected individuals. Middle: Electropherogram showing the missense mutation c.353G>A (p.C118Y). Right: Hands and feet of individual IV:4. (c) Family 3 comprises five affected individuals. Middle: Electropherogram showing the missense variant c.3G>A (p.M1I). Right: Hands and feet of individual IV:3.

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us