Saethre-Chotzen Syndrome

Known as: ACS3, SCS, Acrocephalosyndactyly III 
A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in… (More)

Topic mentions per year

Topic mentions per year

1975-2017
024619752017

Papers overview

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Review
2009
Review
2009
OBJECTIVE Saethre-Chotzen Syndrome (SCS) is an autosomal dominant disorder with widespread phenotypic variability. Cardinal… (More)
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2002
2002
Saethre-Chotzen syndrome is a common autosomal dominant form of craniosynostosis, the premature fusion of the sutures of the… (More)
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1999
1999
Saethre-Chotzen syndrome (ACS III) is an autosomal dominant craniosynostosis syndrome recently ascribed to mutations in the TWIST… (More)
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Highly Cited
1997
Highly Cited
1997
Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly… (More)
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1995
1995
We describe three families segregating different reciprocal chromosome translocations, t(7;18)(p21.2;q23), t(2;7)(q21.1;p21.2… (More)
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1991
1991
The acrocephalosyndactylies (ACS) are a group of inherited disorders characterized by premature fusion of cranial sutures in… (More)
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1985
1985
Acrocephalosyndactyly (ACS) is an inherited syndrome of premature synostosis of the cranial sutures and abnormalities in the… (More)
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1985
1985
SummaryA 4.5-year-old girl with clinical features of both the Pfeiffer and Saethre-Chotzen syndromes is described. She was… (More)
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1984
1984
Saethre-Chotzen syndrome is characterised by craniosynostosis, facial asymmetry, low set frontal hairline, ptosis of the eyelids… (More)
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1975
1975
The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with… (More)
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