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Apert syndrome

Known as: ACS1, Syndactylic Oxycephaly, Acrocephalosyndactyly Type I 
An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the… 
National Institutes of Health

Related topics

Related topics

29 relations
Absence of septum pellucidumAcrobrachycephalyAcrocephalopolysyndactylyAcrocephalosyndactylia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2005
Review
2005
Successful Acne Management in Apert Syndrome Twins
Abstract:  Apert syndrome, or acrocephalosyndactyly, is characterized by craniosynostosis and early epiphyseal closure resulting… 
Highly Cited
2004
Highly Cited
2004
A Soluble Form of Fibroblast Growth Factor Receptor 2 (FGFR2) with S252W Mutation Acts as an Efficient Inhibitor for the Enhanced Osteoblastic Differentiation Caused by FGFR2 Activation in Apert…
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point… 
2000
2000
Specificities of functionally expressed chalcone and acridone synthases from Ruta graveolens.
The common rue, Ruta graveolens L., expresses two types of closely related polyketide synthases that condense three malonyl-CoAs… 
2000
2000
Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology
Apert syndrome is characterized by coronal craniosynostosis, midfacial hypoplasia, symmetrical syndactyly of the hands and feet… 
1994
1994
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from…
Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently… 
1990
1990
Congenital tracheal stenosis in Pfeiffer syndrome
We report an infant with Pfeiffer syndrome (acrocephalosyndactyly type V) and a solid cartilaginous trachea lacking rings. This… 
1980
1980
Pitfalls of genetic counselling in Pfeiffer's syndrome.
A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly… 
1973
1973
Apert syndrome and palatal mucopolysaccharides.
By means of histochemical techniques, six of seven patients with Apert syndrome were found to have a heavy deposit of acid… 
Highly Cited
1971
Highly Cited
1971
Stereophotogrammetric analysis of casts of normal and abnormal palates.
Highly Cited
1970
Highly Cited
1970
The hand and Apert's syndrome.
Twenty cases of Apert's syndrome are presented, only one of which has appeared as a case report in the previous literature. A… 
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