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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
2010
Review
2010
Lethal acantholytic epidermolysis bullosa.
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
2008
Highly Cited
2008
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.
Congenital anonychia is a rare autosomal-recessive disorder characterized by the absence of finger- and toenails. Recently, we… 
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.
Review
2004
Review
2004
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association?
An unusual case of Zimmermann-Laband syndrome in a young male child with an unreported association of bilateral developmental… 
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… 
1990
1990
Congenital onychodysplasia of the index fingers.
1983
1983
Hydrocephalus and abnormal digits after failed first-trimester prostaglandin abortion attempt.
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