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Shprintzen syndrome

Known as: 22q11.2DS, Sedlackova Syndrome, Velo Cardio Facial Syndrome 
National Institutes of Health

Related topics

Related topics

23 relations
Abnormality of internal carotid arteryAggressive behaviorAutosomal dominant inheritanceCleft Palate

Broader (3)

Congenital chromosomal diseaseDiGeorge SyndromeSyndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Goldberg-Shprintzen syndrome (GOSHS, MIM #609460) is an autosomal recessive disorder of intellectual disability, specific facial… 
2010
2010
Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome
2009
2009
A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome
Review
2009
Review
2009
Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome)
Velocardiofacial syndrome, now known as 22q11.2 deletion syndrome (22qDS), is estimated to affect more than 700 children born in… 
Review
1999
Review
1999
Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.
We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis… 
Highly Cited
1999
Highly Cited
1999
Systematic mutation analysis of the catechol O-methyltransferase gene as a candidate gene for schizophrenia.
OBJECTIVE Catechol O-methyltransferase (COMT) is involved in the degradation of catecholamine neurotransmitters. Recent linkage… 
1998
1998
Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome).
1997
1997
Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.
We report on an 8-year-old girl with an unbalanced 15;22 translocation and manifestations of DiGeorge syndrome (DGS… 
Review
1996
Review
1996
Neural tube defects and deletions of 22q11.
Recently we reported on three unrelated children with neural tube defects (NTDs) and deletion of 22q11. Two of these children… 
1996
1996
Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region.
DiGeorge syndrome (DGS) and velocardiofacial syndrome have been shown to be associated with microdeletions of chromosomal regions… 
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