Anonychia

Developmental and genetic diseases

20p13 Google OMIM Orphanet PubMed

Anonychia

*Gene map locus 20p13

Anonychia congenita

Hyponychia congenita

[Clinical features: congenital absence of fingernails and/or toenails]

[Inheritance: autosomal recessive]


Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia	Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia	Anonychia
American Journal of Human Genetics	American Journal of Human Genetics	Atlas of Dermatology - Dr. Dubin's Collection


Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia	Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia	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
Journal of Investigative Dermatology	Journal of Investigative Dermatology	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
Journal of Investigative Dermatology

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Edited by Aldo Campana, February 8, 2010