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Lip pit
Known as:
Lip pits
A depression located on a lip. [HPO:probinson]
National Institutes of Health
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Related topics
Related topics
3 relations
Branchio-Oculo-Facial Syndrome
Edema
Narrower (1)
Congenital lip pits
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
E. Mangold
,
A. Böhmer
,
+30 authors
K. Ludwig
American Journal of Human Genetics
2016
Corpus ID: 8090942
Highly Cited
2005
Highly Cited
2005
Variation in IRF6 contributes to nonsyndromic cleft lip and palate
S. Blanton
,
A. Cortez
,
S. Stal
,
J. Mulliken
,
R. Finnell
,
J. Hecht
American Journal of Medical Genetics. Part A
2005
Corpus ID: 25084563
Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial birth defect which results in lifelong…
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2005
2005
Congenital lip pits and van der Woude syndrome.
M. Ziai
,
A. G. Benson
,
H. Djalilian
The Journal of craniofacial surgery (Print)
2005
Corpus ID: 7098449
Van der Woude syndrome is an autosomal dominant disease characterized by lower lip pits with or without cleft lip and/or cleft…
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2004
2004
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.
V. Gatta
,
O. Scarciolla
,
M. Cupaioli
,
C. Palka
,
P. L. Chiesa
,
L. Stuppia
Mutation research
2004
Corpus ID: 27140817
Highly Cited
2002
Highly Cited
2002
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
S. Kondo
,
B. Schutte
,
+23 authors
J. Murray
Nature Genetics
2002
Corpus ID: 19431352
Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix–turn…
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Highly Cited
1988
Highly Cited
1988
Popliteal pterygium syndrome.
R. Deskin
,
D. Sawyer
International Journal of Pediatric…
1988
Corpus ID: 4222320
Highly Cited
1987
Highly Cited
1987
Lip pits and deletion 1q32----41.
M. Bocian
,
A. Walker
American journal of medical genetics
1987
Corpus ID: 22814008
A patient with an interstitial deletion of chromosome 1q[del(1q32----41)] was found to have, among other anomalies, congenital…
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Review
1986
Review
1986
The Van der Woude syndrome (dominantly inherited lip pits and clefts).
A. Schinzel
,
M. Kläusler
Journal of Medical Genetics
1986
Corpus ID: 28147967
A patient with symmetrical lower lip pits with or without cleft lip or palate is most likely to be the carrier of a dominant gene…
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Highly Cited
1985
Highly Cited
1985
Genetic analysis in families with van der Woude syndrome.
A. Burdick
,
D. Bixler
,
C. Puckett
Journal of Craniofacial Genetics and…
1985
Corpus ID: 46694763
We have brought together information on 864 affected individuals in 164 families (including three new pedigrees) reported in the…
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1973
1973
Lip Pits and Congenital Absence of Second Premolars: Varied Expression of the Lip Pits Syndrome
E. L. Schneider
Journal of Medical Genetics
1973
Corpus ID: 37115639
A family with the lip pits syndrome is described in which nine of the 11 affected members have hypodontia involving the second…
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