Nail disorder, nonsyndromic congenital, 10; NDNC10

Disease ID:125
Name:Nail disorder, nonsyndromic congenital, 10; NDNC10
Associated with:1 target
Synonyms
Autosomal-recessive nail dysplasia
Database Links
OMIM: 614157
Orphanet: ORPHA280654

Targets

FZD6
References:  1
Mutations:  FZD6 is associated with 3 mutation. Click here for details

Ligands

No ligand related data available for Nail disorder, nonsyndromic congenital, 10; NDNC10

References

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1. Fr√∂jmark AS, Schuster J, Sobol M, Entesarian M, Kilander MB, Gabrikova D, Nawaz S, Baig SM, Schulte G, Klar J et al.. (2011) Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia. Am. J. Hum. Genet., 88 (6): 852-60. [PMID:21665003]

2. Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC. (2012) FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. Br. J. Dermatol., 166 (5): 1088-94. [PMID:22211385]

3. Raza SI, Muhammad N, Khan S, Ahmad W. (2013) A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. Br. J. Dermatol., 168 (2): 422-5. [PMID:22861124]