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

The R-spondin protein family

(2012) Wim BM de Lau et al.   GENOME BIOLOGY

Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia

(2011) Anne-Sophie Fröjmark et al.   AMERICAN JOURNAL OF HUMAN GENETICS

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

(2009) Axel Bohring et al.   AMERICAN JOURNAL OF HUMAN GENETICS

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

(2009) Sadia Nawaz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia

(2007) Yoshiyuki Ishii et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin 4

(2007) Nadina Ortiz Brüchle et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY