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  1. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1334
    ... own window Syndrome Genetic Mechanism / Associated Gene Phenotype Reference Bardet-Biedl syndrome Pathogenic variants in of one of 19 genes ...
  2. Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1363
    ... Counseling of Family Members of an Individual with Bardet-Biedl Syndrome Resources Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  3. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the La Réunion ... 
    https://www.ncbi.nlm.nih.gov/books/NBK587320
    ... 2 Carrier Frequency Ethnicity (Specific Region) Reference Sequences References ARL6 Bardet-Biedl syndrome AR c.535G>A 3 (IVS9-1G>A) -- ~ ...
  4. NLM Digital Collections - Aneurysm of the Abdominal Aorta 
    https://resource.nlm.nih.gov/101662437X836
    ... 8. 29. Sundar PS, Sialy R, Dash RJ. Bardet Biedl syndrome: a case report with special reference to studies on hypothalamo-pituitary testicular axis. J ...
  5. Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1417
    ... Review Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Weleber RG, Francis PJ, Trzupek KM, Beattie C. GeneReviews(®). 1993 Review Bardet-Biedl Syndrome Overview. [GeneReviews(®). 1993] Review Bardet-Biedl Syndrome Overview. ...
  6. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Newfoundland ... 
    https://www.ncbi.nlm.nih.gov/books/NBK556454
    ... 2 Carrier Frequency Ethnicity (Specific Region) Reference Sequences References APC Familial adenomatous polyposis, attenuated AD c.221-1G>A (IVS2-1G>A) -- ~80% NA Newfoundland NM_00038 ​.6 Spirio et al [1999] , Woods et al [2010] BBS1 Bardet-Biedl syndrome AR c.1169T>G p.Met390Arg ~100% 3 ...
  7. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Faroe Islander .... 
    https://www.ncbi.nlm.nih.gov/books/NBK551090
    ... in Gene 2 Carrier Frequency Ethnicity Reference Sequences References AGL Glycogen storage disease type ... BBS1 Bardet-Biedl syndrome AR c.1110+3G>C (IVS11+3G>C) -- ...
  8. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... Genome Variation Society ( varnomen ​.hgvs.org ). See Quick Reference for ... 1 and in Bardet-Biedl syndrome type 13. Abnormal gene product. By testing ...
  9. McKusick-Kaufman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1502
    ... MKKS Data are compiled from the following standard references: gene from ... Pathogenesis McKusick-Kaufman syndrome (MKS), like Bardet-Biedl syndrome (BBS) is part of a group of ...
  10. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... can be indicative of a syndrome (e.g., Bardet-Biedl syndrome and Joubert syndrome). With time, some individuals who ... see Table 2 in Joubert Syndrome, Clinical Characteristics ). Bardet-Biedl syndrome (BBS) is a multisystem ciliopathy primarily characterized by ...
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