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100 results

  1. FBLN5-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5201
    ... cystic media degeneration) is indistinguishable from that of Marfan syndrome . It remains to be seen whether pathogenic variants ... V, Bönnemann CG. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz ...
  2. Camurati-Engelmann Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1156
    ... CED involves increased TGFB1 signaling, also found in Marfan syndrome and Loeys-Dietz syndrome , incidence of aortic disease ... E, Crawford S. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz ...
  3. ELN-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584550
    ... repair are not established. In general, criteria for Marfan syndrome can be used. Effectiveness of beta-blocking agents ... be prevented as much as possible (similar to Marfan syndrome guidelines). Sunbathing or tanning, to preserve residual skin ...
  4. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1524
    ... excavatum) that may give the clinical impression of Marfan syndrome, but without joint hypermobility Vascular abnormalities characterized by ... condition that most closely mimics classic homocystinuria is Marfan syndrome , which shares the features of long thin body ...
  5. Apert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541728
    ... Syndrome. Roberts AE. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 See reviews... See all... ...
  6. Classic Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1244
    ... M, Giunta C. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review COL1A1- and COL1A2- ...
  7. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... RD, Basel D. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review Fanconi Anemia. [GeneReviews(®). ...
  8. Genetic Steroid-Resistant Nephrotic Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK573219
    ... PubMed Similar articles in PubMed Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Interventions for idiopathic steroid- ...
  9. Lowe Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1480
    ... A, Abrash E. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review PTS-Related Tetrahydrobiopterin ...
  10. WT1 Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK556455
    ... EC, Vilain EJ. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 See reviews... See all... ...
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