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ANONYCHIA

Known as: Congenital absence of nails (anonychia), Anonychia congenita, Hyponychia congenita 
Aplasia of the nail. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

11 relations
Al Awadi syndromeAnonychia-onychodystrophy with hypoplasia or absence of distal phalangesCongenital absenceMAMMARY-DIGITAL-NAIL SYNDROME

Narrower (1)

Anonychia with Flexural Pigmentation

Broader (2)

Congenital DisordersNails, Malformed

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
Highly Cited
2013
Highly Cited
2013
Structure of stem cell growth factor R-spondin 1 in complex with the ectodomain of its receptor LGR5.
Review
2012
Review
2012
The R-spondin protein family
The four vertebrate R-spondin proteins are secreted agonists of the canonical Wnt/β-catenin signaling pathway. These proteins are… 
Highly Cited
2009
Highly Cited
2009
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia 
Highly Cited
2008
Highly Cited
2008
Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
Recently, we reported that mutations in the R-spondin 4 (RSPO4) gene underlie inherited anonychia/hyponychia. Here, we studied… 
Highly Cited
2006
Highly Cited
2006
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia
Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype… 
Highly Cited
2006
Highly Cited
2006
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
Anonychia is an autosomal recessive disorder characterized by the congenital absence of finger- and toenails. In a large German… 
2004
2004
Familial juvenile hypertrophy of the breast.
Highly Cited
2002
Highly Cited
2002
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
Guttmacher syndrome, a dominantly inherited combination of distal limb and genital tract abnormalities, has several features in… 
1983
1983
Hydrocephalus and abnormal digits after failed first-trimester prostaglandin abortion attempt.
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