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23 results
  1. Alström Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1267
    ... Alström syndrome National Library of Medicine Genetics Home Reference Alstrom syndrome Ciliopathy Alliance United Kingdom ciliopathyalliance.org EURO-WABB ...
  2. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Acadian ... 
    https://www.ncbi.nlm.nih.gov/books/NBK580717
    ... 1 Carrier Frequency Ethnicity (Specific Region) Reference Sequences References ALMS1 Alström syndrome AR c.10535_10536ins19 p.Lys3512AsnfsTer18 ~100% 2 ...
  3. 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 ...
  4. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Mennonite ... 
    https://www.ncbi.nlm.nih.gov/books/NBK592267
    ... Frequency Ethnicity (Specific Region or Conference) Reference Sequences Reference(s) 3 ACADM ... ALMS1 Alström syndrome AR c.10480C>T p.Gln3494Ter ~100% 5 ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/alstrom-syndrome</url><title >Alström syndrome</title><other_names ><other_name >ALMS</other_name>< ...
  6. Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1363
    ... Disorder Overlapping w/BBS Distinguishing from BBS ALMS1 Alström syndrome (AS) AR Cone-rod dystrophy (presents earlier in ... congenital hepatic fibrosis, and Joubert, Bardet-Biedl, and Alström syndromes. Dr Gunay-Aygun's website Author History Philip ...
  7. Werner Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1514
    ... S, Pendyal S, Kishnani PS. GeneReviews(®). 1993 Review Alström Syndrome. [GeneReviews(®). 1993] Review Alström Syndrome. Paisey RB, Steeds R, Barrett T, Williams D, ...
  8. Woodhouse-Sakati Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK378974
    ... D, Guerrini R, Sisodiya S. GeneReviews(®). 1993 Review Alström Syndrome. [GeneReviews(®). 1993] Review Alström Syndrome. Paisey RB, Steeds R, Barrett T, Williams D, ...
  9. Perrault Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK242617
    ... Anemia. Mehta PA, Ebens C. GeneReviews(®). 1993 Review Alström Syndrome. [GeneReviews(®). 1993] Review Alström Syndrome. Paisey RB, Steeds R, Barrett T, Williams D, ...
  10. Achromatopsia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1418
    ... in luminance Normal to subnormal visual acuity Photophobia Alström syndrome 11 ALMS1 AR Infantile nystagmus Photophobia Severely reduced ... or no color discrimination Possible additional findings in Alström syndrome: cardiomyopathy, kidney failure, obesity, sensorineural hearing loss, diabetes ...
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