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100 results

  1. Marfan Syndrome 
    https://medlineplus.gov/marfansyndrome.html
    ... National Library of Medicine) Clinical Trials ClinicalTrials.gov: Marfan Syndrome (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  2. Milroy Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1239
    ... de Paris, Hôpital Bichat–Claude Bernard Centre de Référence (CRMR) Syndromes de Marfan et apparentés 46 rue Henri Huchard – 75018 Paris, ...
  3. xmlmplus_topics_2025-08-12.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-08-12.xml
    ... Genética y defectos congénitos</group><language-mapped-topic >Marfan ... >Marfan, Síndrome de</see-reference><site ><information-category > ...
  4. Ehlers-Danlos Syndrome | EDS | MedlinePlus 
    https://medlineplus.gov/ehlersdanlossyndrome.html
    ... Education and Research) Ehlers-Danlos Syndrome Hypermobility Type (Marfan Foundation) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  5. FBN1-Related Marfan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1335
    ... more recent information. — ED. Table A. FBN1-Related Marfan Syndrome: Genes and ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  6. Weill-Marchesani Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1114
    ... Syndrome View in own window Gene Disorder MOI Reference FBN1 Acromicric ... (OMIM 129600 ) Marfan syndrome MASS syndrome (OMIM 604308 ) Stiff skin syndrome ( ...
  7. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... TGFBR2 Nonsyndromic heritable thoracic aortic disease Differential Diagnosis Marfan Syndrome and Shprintzen-Goldberg Syndrome FBN1 -related Marfan syndrome ...
  8. Heritable Thoracic Aortic Disease Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1120
    ... syndrome associated with thoracic aortic disease (e.g., Marfan syndrome , Loeys-Dietz syndrome ). A genetic cause of HTAD ... majority of individuals with a clinical diagnosis of Marfan syndrome or Loeys-Dietz syndrome. However, a genetic cause ...
  9. Congenital Contractural Arachnodactyly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1386
    ... GeneReview . Since the differential diagnosis of CCA includes Marfan syndrome and Loeys-Dietz syndrome , clinicians requesting a panel ... Diagnosis Disorder Overlapping w/CCA Distinguishing from CCA Marfan syndrome FBN1 AD Marfanoid habitus, dolichostenomelia Arachnodactyly Pectus deformity, ...
  10. Shprintzen-Goldberg Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1277
    ... 2013 ]. Differential Diagnosis Loeys-Dietz syndrome (LDS) and Marfan syndrome (MFS). The phenotype of Shprintzen-Goldberg syndrome (SGS) ... feature is absent; LDS = Loeys-Dietz syndrome ; MFS = Marfan syndrome ; SGS = Shprintzen-Goldberg syndrome 1. Approximately 75%-85% ...
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