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ANONYCHIA
Known as:
Congenital absence of nails (anonychia)
, Anonychia congenita
, Hyponychia congenita
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Aplasia of the nail. [HPO:probinson]
National Institutes of Health
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Related topics
Related topics
11 relations
Al Awadi syndrome
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
Congenital absence
MAMMARY-DIGITAL-NAIL SYNDROME
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Narrower (1)
Anonychia with Flexural Pigmentation
Broader (2)
Congenital Disorders
Nails, 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.
J. Fine
,
L. Bruckner-Tuderman
,
+19 authors
G. Zambruno
Journal of American Academy of Dermatology
2014
Corpus ID: 1523304
Highly Cited
2013
Highly Cited
2013
Structure of stem cell growth factor R-spondin 1 in complex with the ectodomain of its receptor LGR5.
Weng Chuan Peng
,
W. de Lau
,
+4 authors
P. Gros
Cell Reports
2013
Corpus ID: 25602417
Review
2012
Review
2012
The R-spondin protein family
W. de Lau
,
B. Snel
,
H. Clevers
Genome Biology
2012
Corpus ID: 16981804
The four vertebrate R-spondin proteins are secreted agonists of the canonical Wnt/β-catenin signaling pathway. These proteins are…
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Highly Cited
2009
Highly Cited
2009
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia
I. Kurth
,
E. Klopocki
,
+9 authors
S. Mundlos
Nature Genetics
2009
Corpus ID: 20331832
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.
Y. Ishii
,
M. Wajid
,
+7 authors
A. Christiano
Journal of Investigative Dermatology
2008
Corpus ID: 20890853
Recently, we reported that mutations in the R-spondin 4 (RSPO4) gene underlie inherited anonychia/hyponychia. Here, we studied…
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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
D. Blaydon
,
Y. Ishii
,
+12 authors
D. Kelsell
Nature Genetics
2006
Corpus ID: 23404430
Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype…
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Highly Cited
2006
Highly Cited
2006
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
C. Bergmann
,
J. Senderek
,
+11 authors
K. Zerres
American Journal of Human Genetics
2006
Corpus ID: 7047838
Anonychia is an autosomal recessive disorder characterized by the congenital absence of finger- and toenails. In a large German…
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2004
2004
Familial juvenile hypertrophy of the breast.
J. Govrin-Yehudain
,
L. Kogan
,
H. Cohen
,
T. Falik-Zaccai
Journal of Adolescent Health
2004
Corpus ID: 12412156
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
J. Innis
,
F. Goodman
,
+6 authors
A. Guttmacher
Human Mutation
2002
Corpus ID: 26468280
Guttmacher syndrome, a dominantly inherited combination of distal limb and genital tract abnormalities, has several features in…
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1983
1983
Hydrocephalus and abnormal digits after failed first-trimester prostaglandin abortion attempt.
F. Collins
,
M. Mahoney
Jornal de Pediatria
1983
Corpus ID: 26549183
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