Temtamy syndrome

Known as: Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation, Dysmorphism, corpus callosum agenesis and colobomas, MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM 
 
National Institutes of Health

Papers overview

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2018
2018
Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of… Expand
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Review
2016
Review
2016
The duplication of short arm of chromosome 7 as de novo is extremely rare. Its phenotype spectrum varies depending on the region… Expand
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2015
2015
Interstitial deletions of 7q show a wide phenotypic spectrum that varies with respect to the location and size of the deleted… Expand
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2015
2015
The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the… Expand
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2014
2014
Structural alterations in chromosomes are a frequent cause of cancers and congenital diseases. Recently, the phenomenon of… Expand
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2012
2012
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by tetrasomy 12p mosaicism associated with a… Expand
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2012
2012
We report on a patient with bilateral multiple craniosynostosis involving the coronal and lambdoid sutures, high myopia, obesity… Expand
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2009
2009
To the Editor: Subtelomeric 1q deletion is a clinically recognizable syndrome (1, 2), while genitopatellar syndrome (GPS) is a… Expand
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2003
2003
We describe the phenotype of a 5 year old girl with features resembling Temtamy syndrome, including agenesis of the corpus… Expand
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