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51 results
  1. Muenke syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/muenke-syndrome
    ... gov Catalog of Genes and Diseases from OMIM MUENKE SYNDROME; MNKES Scientific Articles on PubMed PubMed References Agochukwu NB, Solomon BD, Muenke M. Impact of ...
  2. Muenke Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1415
    ... posted live 30 January 2006 (mm) Original submission References Literature Cited Agochukwu NB, Solomon BD, Benson LJ, Muenke M. Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature ...
  3. Jackson-Weiss syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome
    ... of Genes and Diseases from OMIM JACKSON-WEISS SYNDROME; JWS Scientific Articles on PubMed PubMed References Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic manifestations ...
  4. FGFR Craniosynostosis Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1455
    ... Review posted live March 1998 (nr) Original submission References Literature Cited Aravidis C, Konialis CP, Pangalos CG, Kosmaidou Z. A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation – case ...
  5. KRAS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/kras
    ... KRAS Gene and Variant Databases NCBI Gene ClinVar References Addissie YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a ...
  6. Greig Cephalopolysyndactyly Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1446
    ... public domain in the United States of ... C, Hoyme HE, McGaughran J, Muenke M, Neri G. Elements of morphology: standard terminology ...
  7. FGFR3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fgfr3
    ... with LADD syndrome. More About This Health Condition Muenke syndrome A single variant in the FGFR3 gene has been shown to cause Muenke syndrome, which is a condition that causes craniosynostosis and ...
  8. Saethre-Chotzen Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1189
    ... Gene(s) MOI Clinical Features Comment Overlapping Distinguishing Muenke syndrome FGFR3 1 AD Unilateral/bilateral coronal synostosis In ... palpebral fissures Ptosis Ear abnormalities Interdigital webbing In Muenke syndrome: Higher prevalence of DD (35%, vs 5% in ...
  9. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/muenke-syndrome</url><title >Muenke syndrome</title><other_names ><other_name >FGFR3-associated coronal ...
  10. Cytochrome P450 Oxidoreductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1419
    ... the typical syndactyly. FGFR2 pathogenic variants are causative. Muenke syndrome is caused by FGFR3 pathogenic variant p.Pro250Arg. Muenke syndrome is characterized by uni-or bilateral synostosis of ...
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