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30 results
  1. Alstrom syndrome 
    https://medlineplus.gov/ency/article/001665.htm
    Alström syndrome ... Alström syndrome is inherited in an autosomal recessive manner. This means both of your parents must pass on ... Alström Syndrome International -- www.alstrom.org
  2. Alström Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1267
    ... Search term GeneReviews Advanced Search Help < Prev Next > Alström Syndrome Richard B Paisey , MD, FRCP, Rick Steeds , MD, ... Alopecia Establishing the Diagnosis The clinical diagnosis of Alström syndrome is based on cardinal clinical features that emerge ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Alström syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. 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>< ...
  5. 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, ...
  6. 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, ...
  7. 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, ...
  8. 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 ...
  9. 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 ...
  10. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Mennonite ... 
    https://www.ncbi.nlm.nih.gov/books/NBK592267
    ... Groffdale) NM_000016 ​.6 Strauss & Puffenberger [2009] ALMS1 Alström syndrome AR c.10480C>T p.Gln3494Ter ~100% 5 ... M, Zenteno JC. A nonsense ALMS1 mutation underlies Alström syndrome in an extended Mennonite kindred settled in north ...
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