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7 results
  1. Genetic Disorders 
    https://medlineplus.gov/geneticdisorders.html
    A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn about the types and how they are detected. ... Genes are the building ...
  2. Hutchinson-Gilford Progeria Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1121
    ... LMNA Data are compiled from the following standard references: gene from HGNC ; ... PROGERIA SYNDROME; HGPS Molecular Basis of Disease For the LMNA pathogenic ...
  3. Werner Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1514
    ... symptoms than in typical Werner syndrome Hutchinson-Gilford progeria syndrome (HGPS, progeria of childhood) 2 AD Like Werner syndrome, affects ...
  4. Emery-Dreifuss Muscular Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1436
    ... cardiomyopathy (LDHCP) [ Caux et al 2003 ] Hutchinson-Gilford progeria syndrome (HGPS) (autosomal dominant). Pathogenic variants in codon 608 are associated with HGPS [ De Sandre-Giovannoli et al 2003 , Eriksson et al ... et al 2004 ] Progeria, arthropathy, and calcinosis of tendons [ Van Esch et ...
  5. SHORT Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK201365
    ... Liver disease in Alagille syndrome LMNA Hutchinson-Gilford progeria syndrome (HGPS) AD Micrognathia, short stature, absence of subcutaneous fat ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... hutchinson-gilford-progeria-syndrome</url><title >Hutchinson-Gilford progeria syndrome</title><other_names ><other_name >HGPS</other_name><other_name >Hutchinson-Gilford syndrome</other_ ...