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100 results

  1. Berardinelli-Seip Congenital Lipodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1212
    ... infancy SHORT syndrome Neonatal progeroid syndrome (OMIM 264090 ) Marfan syndrome , progeroid subtype, caused by pathogenic variants at the ... Fahsold R, Schmidt H, Hoffmann K, Passarge E. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with ...
  2. EED-Related Overgrowth - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK540017
    ... in DNMT3A -related overgrowth syndrome. FBN1 FBN1 -related Marfan syndrome AD Tall stature in childhood Scoliosis Camptodactyly Dilatation of aortic root is more common in Marfan syndrome. Lack of intellectual disability FBN2 Congenital contractural arachnodactyly ( ...
  3. RAB18 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK475670
    ... 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... ...
  4. Potocki-Lupski Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK447920
    ... 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... ...
  5. Hereditary Paraganglioma-Pheochromocytoma Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1548
    ... Syndrome. Sieff C. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review Multiple Endocrine Neoplasia ...
  6. SALL4-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1373
    ... 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... ...
  7. SHORT Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK201365
    ... Syndrome. Roberts AE. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review Noonan Syndrome with ...
  8. Lynch Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1211
    ... PA, Ebens C. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review Genetic Atypical Hemolytic- ...
  9. Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1289
    ... PA, Ebens C. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 See reviews... See all... ...
  10. Saethre-Chotzen Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1189
    ... 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... ...
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