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42 results
  1. ... Alström syndrome National Library of Medicine Genetics Home Reference Alstrom syndrome Ciliopathy Alliance United Kingdom ciliopathyalliance.org EURO-WABB ...
  2. ... 1 Carrier Frequency Ethnicity (Specific Region) Reference Sequences References ALMS1 Alström syndrome AR c.10535_10536ins19 p.Lys3512AsnfsTer18 ~100% 2 ...
  3. 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. ... Frequency Ethnicity (Specific Region or Conference) Reference Sequences Reference(s) 3 ACADM ... ALMS1 Alström syndrome AR c.10480C>T p.Gln3494Ter ~100% 5 ...
  5. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/alstrom-syndrome</url><title >Alström syndrome</title><other_names ><other_name >ALMS</other_name>< ...
  6. ... Dandy-Walker Syndrome Hereditary Sensory and Motor Neuropathy Alstrom Syndrome Charcot-Marie-Tooth Disease Giant Axonal Neuropathy Refsum ... System Demyelinating Diseases Hereditary Sensory and Motor Neuropathy Alstrom Syndrome Charcot-Marie-Tooth Disease Giant Axonal Neuropathy Refsum ...
  7. ... Sensory and Motor Neuropathy C10.500.300.099 Alstrom Syndrome C10.500.300.200 Charcot-Marie-Tooth Disease ... and Motor Neuropathy C10.574.500.495.099 Alstrom Syndrome C10.574.500.495.200 Charcot-Marie-Tooth ...
  8. ... Sensory and Motor Neuropathy C10.500.300.099...........................................Alstrom Syndrome C10.500.300.200...........................................Charcot-Marie-Tooth Disease ...
  9. ... 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 ...
  10. ... S, Pendyal S, Kishnani PS. GeneReviews(®). 1993 Review Alström Syndrome. [GeneReviews(®). 1993] Review Alström Syndrome. Paisey RB, Steeds R, Barrett T, Williams D, ...
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