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Oculo-dento-digital syndrome
Known as:
ODD Syndrome
, syndrome oculodentodigital
, ODOD
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National Institutes of Health
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Related topics
Related topics
35 relations
Acquired cubitus valgus
Ataxia
Autosomal dominant inheritance
Basal ganglia calcification
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Broader (5)
Congenital Foot Deformity
Craniofacial Abnormalities
Eye Abnormalities
Syndactyly
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms
Tao Huang
,
Qing Shao
,
+4 authors
D. Laird
Journal of Cell Science
2013
Corpus ID: 27228994
Summary Oculodentodigital dysplasia (ODDD) is mainly an autosomal dominant human disease caused by mutations in the GJA1 gene…
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Review
2012
Review
2012
Modulation of gap junction channels and hemichannels by growth factors.
K. Schalper
,
M. Riquelme
,
+5 authors
J. Sáez
Molecular Biosystems
2012
Corpus ID: 24206255
Gap junction hemichannels and cell-cell channels have roles in coordinating numerous cellular processes, due to their…
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2012
2012
The G60S Cx43 mutant enhances keratinocyte proliferation and differentiation
Jared M. Churko
,
J. Kelly
,
+4 authors
D. Laird
Experimental Dermatology
2012
Corpus ID: 24182147
Transient knock‐down of the gap junction protein Cx43 by antisense and siRNA, or gap junction block with mimetic peptides, have…
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2010
2010
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation
A. Jamsheer
,
M. Badura-Stronka
,
A. Sowińska
,
S. Dębicki
,
Krzysztof Kiryluk
,
A. Latos-Bieleńska
Clinical Genetics
2010
Corpus ID: 45973629
To the Editor : Oculodentodigital dysplasia (ODDD; MIM#164 200) is a predominantly autosomal dominant (AD) disorder caused by…
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2007
2007
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation
M. Himi
,
T. Fujimaki
,
T. Yokoyama
,
K. Fujiki
,
T. Takizawa
,
A. Murakami
Japanese Journal of Ophthalmology
2007
Corpus ID: 8361760
PurposeTo report a case of oculodentodigital dysplasia syndrome (ODDD) with a heterozygous mutation in GJA1 (connexin 43) gene…
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Review
2005
Review
2005
Craniotubular bone disorders
Robert J. Gorlin
Pediatric Radiology
2005
Corpus ID: 40520131
1. Craniometaphyseal dysplasia 2. Craniodiaphyseal dysplasia 3. Frontometaphyseal dysplasia 4. Craniometadiaphyseal dysplasia 5…
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1993
1993
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.
C. Schrander‐Stumpel
,
J. B. De Groot-Wijnands
,
C. D. de Die-Smulders
,
J. Fryns
Genetic Counseling
1993
Corpus ID: 20624282
A newborn male patient presented with complete cutaneous syndactyly of fingers 3-5 in the left hand and fingers 4-5 in the right…
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1983
1983
Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies.
A. Glanz
,
A. Forse
,
R. Polomeno
,
D. Cole
Canadian Journal of Ophthalmology-journal…
1983
Corpus ID: 41695372
Lenz microphthalmia is a syndrome of microphthalmia accompanied by multiple congenital anomalies, none of which is unique to the…
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1978
1978
Oculodentodigital dysplasia syndrome with angle-closure glaucoma.
H. Sugar
American journal of ophthalmology-glaucoma
1978
Corpus ID: 21551376
1967
1967
Orodigitofacial dysostosis and oculodentodigital dysplasia. Two distinct syndromes with some similarities.
E. Eidelman
,
A. Chosack
,
M. L. Wagner
Oral surgery, oral medicine, and oral pathology
1967
Corpus ID: 46435687
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