OTOPALATODIGITAL SYNDROME, TYPE II

Known as: OPD Syndrome 2, Oto-palato-digital syndrome, type 2, Cranioorodigital Syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1974-2017
024619742017

Papers overview

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2013
2013
Branched-chain keto acids (BCKAs) are associated with increased susceptibility to several degenerative diseases. However, BCKA… (More)
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2012
2012
In this study, a ligand-PEG-lipid conjugate, octreotide-polyethene glycol-deoxycholic acid (OCT(Phe)-PEG-DOCA, or OPD) was… (More)
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2012
2012
A key ingredient in the current proposal of the DSM-5 Work Group on Personality and Personality Disorders is the assessment of… (More)
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2011
2011
X-linked periventricular nodular heterotopia (PH) is a neuronal migration disorder caused by mutations in the gene encoding… (More)
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2011
2011
We report on a male infant with otopalatodigital syndrome type 2 (OPD2) associated with a novel c.514C>G FLNA mutation and… (More)
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2009
2009
Filamin A (FLNa) is a large dimeric protein that binds to actin filaments via its actin-binding domain (ABD). The crystal… (More)
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2006
2006
The otopalatodigital syndrome (OPD) spectrum disorders are a heterogeneous group of skeletal dysplasias caused by mutations in… (More)
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2006
2006
INTRODUCTION Otopalatodigital syndrome type II is a rare X-linked recessive disorder with generalized skeletal dysplasia and… (More)
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2000
2000
Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial… (More)
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1997
1997
We report on 2 cases of otopalatodigital syndrome type II (OPD II) with atypical skeletal changes, overlapping those of boomerang… (More)
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