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24 results
  1. Apert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541728
    ... Apert Syndrome National Library of Medicine Genetics Home Reference Apert syndrome Molecular Genetics Information in the Molecular Genetics and ... may contain more recent information. — ED. Table A. Apert Syndrome: Genes and ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. FGFR Craniosynostosis Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1455
    ... 2020 (tw) Revision: clarification regarding syndactyly/polydactyly in Apert syndrome 16 April 2020 (sw) Comprehensive update posted ... Cited Aravidis C, Konialis CP, Pangalos CG, ...
  3. Craniofacial Anomalies | Craniofacial Abnormalities | MedlinePlus 
    https://medlineplus.gov/craniofacialabnormalities.html
    ... Syndrome (For Parents) (Nemours Foundation) Guide to Understanding Apert Syndrome (Children's Craniofacial Association) - PDF Guide to Understanding Pfeiffer ...
  4. Muenke Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1415
    ... digits Malformed & fused phalanges Symphalangism Mandibular prognathism FGFR2 Apert syndrome Bilateral coronal synostosis Broad thumbs & great toes Widely ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/apert-syndrome</url><title >Apert syndrome</title><other_names ><other_name >Acrocephalosyndactyly</other_name>< ...
  6. Osteoglophonic Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK602944
    ... toes Medially deviated thumbs & great toes CHL FGFR2 Apert syndrome AD Multisuture craniosynostosis Moderate-to-severe midface retrusion ... Gene Locus Links Similar articles in PubMed Review Apert Syndrome. [GeneReviews(®). 1993] Review Apert Syndrome. Wenger TL, Hing ...
  7. Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1526
    ... FGFR -related craniosynostosis syndromes (e.g., Pfeiffer syndrome, Apert syndrome), in Saethre-Chotzen syndrome, and in Greig cephalopolysyndactyly ... Distinguishing from RSTS FGFR1 FGFR2 FGFR3 Pfeiffer syndrome & Apert syndrome (See FGFR -Related Craniosynostosis Syndromes Overview .) AD Broad/ ...
  8. Cytochrome P450 Oxidoreductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1419
    ... include Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, and Beare-Stevenson syndrome (see FGFR- Related Craniosynostosis ). ... fusion). FGFR1 and FGFR2 pathogenic variants are causative. Apert syndrome can usually be distinguished from ABS by the ...
  9. Hypochondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1477
    ... shown in achondroplasia [ Wilkin et al 1998 ] and Apert syndrome [ Moloney et al 1996 ]. In some instances, one ... AO. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996; 13 :48–53. [see comments] [ ...
  10. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... Anemia. Mehta PA, Ebens C. GeneReviews(®). 1993 Review Apert Syndrome. [GeneReviews(®). 1993] Review Apert Syndrome. Wenger TL, Hing AV, Evans KN. GeneReviews(®). 1993 ...
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