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Items: 2

1.
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)
Tahir Naeem Khan, Joakim Klar, Sadia Nawaz, Muhammad Jameel, Muhammad Tariq, Naveed Altaf Malik, Shahid M Baig, Niklas Dahl
BMC Med Genet. 2012; 13: 120. Published online 2012 Dec 13. doi: 10.1186/1471-2350-13-120
PMCID:
PMC3532313
AbstractArticlePDF–1.7M
2.
Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia
C.  Bergmann, J.  Senderek, D.  Anhuf, C. T.  Thiel, A. B.  Ekici, P.  Poblete-Gutiérrez, M.  van Steensel, D.  Seelow, G.  Nürnberg, H. H.  Schild, P.  Nürnberg, A.  Reis, J.  Frank, K.  Zerres
Am J Hum Genet. 2006 Dec; 79(6): 1105–1109. Published online 2006 Oct 17. doi: 10.1086/509789
PMCID:
PMC1698700
AbstractArticlePDF–472K

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