Literature DB >> 11992490

Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation.

Eugen Boltshauser.   

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Year:  2002        PMID： 11992490     DOI： 10.1002/ajmg.10366

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  1 in total

1.  Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

Authors:  Boris Utsch; John A Sayer; Massimo Attanasio; Rob Rodrigues Pereira; Michael Eccles; Hans-Christian Hennies; Edgar A Otto; Friedhelm Hildebrandt
Journal:  Pediatr Nephrol       Date:  2005-10-21       Impact factor: 3.714
  1 in total

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