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  1. Muenke Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1415
    ... Search term GeneReviews Advanced Search Help < Prev Next > Muenke Syndrome Paul Kruszka , MD, MPH, Myron Rolle , MD, Kristopher ... Estimated reading time: 26 minutes Summary Clinical characteristics. Muenke syndrome is characterized by considerable phenotypic variability; features may ...
  2. Muenke syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/muenke-syndrome
    ... should. Learn more about the gene associated with Muenke syndrome FGFR3 Inheritance This condition is inherited in an ...
  3. 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 ...
  4. FGFR Craniosynostosis Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1455
    ... Normal hands Most w/normal intelligence Genu valgum Muenke syndrome Uni- or bicoronal craniosynostosis (85%) Variable midface retrusion & ... duplication analysis to detect intragenic deletions or duplications. Muenke syndrome. Targeted analysis of FGFR3 pathogenic variant p.Pro250Arg. ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Muenke syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  6. 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 ...
  7. Genetic Conditions: M 
    https://medlineplus.gov/genetics/condition-m
    ... see Cystic fibrosis Muenke nonsyndromic coronal craniosynostosis, see Muenke syndrome Muenke syndrome Mullerian agenesis, see Mayer-Rokitansky-Küster- ...
  8. 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 ...
  9. 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 ...
  10. Achondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1152
    ... types I and II) FGFR -related craniosynostosis , including Muenke syndrome and Crouzon syndrome with acanthosis nigricans Isolated familial ... 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000; 21 :23– ...
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