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Congenital malformation syndrome

A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system.
National Institutes of Health

Papers overview

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2013
2013
Meckel–Gruber syndrome (MKS, OMIM #249000) is a multiple congenital malformation syndrome that represents the severe end of the… Expand
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Highly Cited
2012
Highly Cited
2012
The exon-junction complex (EJC) performs essential RNA processing tasks. Here, we describe the first human disorder… Expand
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Review
2008
Review
2008
Klippel-Trenaunay syndrome (KTS) is a congenital malformation syndrome involving blood and lymph vessels and disturbed growth of… Expand
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Highly Cited
2002
Highly Cited
2002
The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the… Expand
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Highly Cited
2001
Highly Cited
2001
Velo-cardio-facial syndrome (VCFS) is a congenital malformation syndrome with variable phenotypic features that has been… Expand
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Review
2001
Review
2001
Wolf-Hirschhorn syndrome (WHS) is a well-known congenital malformation syndrome caused by deletion of the short arm of chromosome… Expand
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2000
2000
A case is given of a male born with a duplication of the left leg and ipsilateral kidney agenesis. Although the etiology is… Expand
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1984
1984
The velo -cardio-facial syndrome is a recently delineated congenital malformation syndrome, probably of autosomal dominant… Expand
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Highly Cited
1981
Highly Cited
1981
Thirty-nine patients with the velo-cardio-facial syndrome are described in order to further delineate this probably common… Expand
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Highly Cited
1978
Highly Cited
1978
This report describes a pattern of similarities among 12 patients which are felt to represent a newly recognized congenital… Expand
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