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38 results
  1. Muenke syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/muenke-syndrome
    ... and learning problems are possible. The signs and symptoms of Muenke syndrome vary among affected people, and some features overlap ... Catalog of Genes and Diseases from OMIM MUENKE SYNDROME; MNKES ... M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... possible.</html:p><html:p >The signs and symptoms of Muenke syndrome vary among affected people, and some features overlap ...
  3. FGFR3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fgfr3
    ... the FGFR3 gene has been shown to cause Muenke syndrome, which is a condition that causes craniosynostosis and leads to a misshapen head and distinctive facial features. Additional signs and symptoms can include hearing loss, subtle hand and foot ...
  4. Saethre-Chotzen Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1189
    ... syndrome vs 5% in SCS) SNHL (34% in Muenke syndrome vs rare in SCS) Consider testing for FGFR3 p.Pro250Arg if a TWIST1 pathogenic variant is not identified in an individual w/a presumed diagnosis of SCS. Isolated unilateral coronal synostosis (IUCS) 3, ...
  5. Hypochondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1477
    ... syndrome w/acanthosis nigricans Isolated coronal synostosis (incl Muenke syndrome – ... Diagnosis Numerous forms of skeletal dysplasia with disproportionate limbs ...
  6. Apert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541728
    ... window Gene Disorder MOI Features of the Differential Diagnosis Disorder In common with "classic" Apert ... syndrome AD Craniosynostosis (unilateral or bilateral coronal) Mild ...
  7. FLNB Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK2534
    ... 7):1559-1568. Epub 2018 May 23. Review Muenke Syndrome [GeneReviews ® . 1993] Review Muenke Syndrome Kruszka P, Addissie YA, Agochukwu NB, Doherty ES, Muenke M. GeneReviews®. 1993 Review Apert Syndrome [GeneReviews ® . 1993] Review Apert Syndrome Wenger TL, Hing ...
  8. Autosomal Dominant Robinow Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK268648
    ... Review FLNB Disorders Robertson S. GeneReviews®. 1993 Review Muenke Syndrome [GeneReviews ® . 1993] Review Muenke Syndrome Kruszka P, Addissie YA, Agochukwu NB, Doherty ES, ...
  9. Floating-Harbor Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK114458
    ... Gene Locus Links Similar articles in PubMed Review Muenke Syndrome [GeneReviews ® . 1993] Review Muenke Syndrome Kruszka P, Addissie YA, Agochukwu NB, Doherty ES, ...
  10. Saul-Wilson Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK554080
    ... A, Bikker H, Hennekam RCM. GeneReviews®. 1993 Review Muenke Syndrome [GeneReviews ® . 1993] Review Muenke Syndrome Kruszka P, Addissie YA, Agochukwu NB, Doherty ES, ...
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