Talk:Joubert syndrome

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Medicine: Genetics / Neurology Low‑importance

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Ideal sources for Wikipedia's health content are defined in the guideline Wikipedia:Identifying reliable sources (medicine) and are typically review articles. Here are links to possibly useful sources of information about Joubert syndrome.

PubMed provides review articles from the past five years (limit to free review articles)
The TRIP database provides clinical publications about evidence-based medicine.
Other potential sources include: Centre for Reviews and Dissemination and CDC

note[edit]

My name is Mackenzie and I wont to tell you about my friens Katie and Ab. Katie is eleven years old and Abi is nine years old. They have Joubert syndrome. I am researching the disease so that you can learn to prevent or learn to live with a child with this disease.If you havent heard about this disease Iwill let you know that your child or friend/l., , will be missing a piece of their brain. You can hav genatic testing to see if your child will have the disease. That might be a good thing to do. I hope you learn alot.

Plagiarism?[edit]

Some of this article appears to be taken verbatim from http://joubertsyndrome.washington.edu/diagnosis.html. Or perhaps they copied Wikipedia? Alki 01:49, 27 November 2006 (UTC)[reply]

According to datestamps it was this article to heavily borrow from them. 151.80.7.85 (talk) 11:40, 18 August 2008 (UTC)[reply]

WikiProject class rating[edit]

This article was automatically assessed because at least one WikiProject had rated the article as start, and the rating on other projects was brought up to start class. BetacommandBot 16:28, 10 November 2007 (UTC)[reply]

New paper: Joubert and ciliopathy[edit]

Was searching for other ciliopathic diseases today and one search returned this VERY recent paper. CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290. Am J Hum Genet. 2008 Oct 22. PMID: 18950740 Thought this might be of interest to some editors in improving this article. N2e (talk) 04:46, 18 November 2008 (UTC)[reply]

ethnicities, statistics, occurrence etc.[edit]

Should be mentioned somewhere what ethnicities are at a higher risk of being born with these mutations, as well as statistics for the overall population etc.

173.206.212.62 (talk) 15:49, 21 December 2010 (UTC)[reply]

The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign).[edit]

The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign).

OK. describe the "molar tooth sign". Wikipedia is for the general public. It is an encyclopaedia. It is not a Medical Textbook for Physicians to consult. What is the "molar tooth sign"? Thank you very much! 69.166.28.32 (talk) 16:07, 11 February 2013 (UTC)[reply]

Antisemitism[edit]

Deleteג this offending sentence: " this has been attributed to the resistance to intermarriage of this population.[13]" — Preceding unsigned comment added by 31.154.49.65 (talk) 11:23, 16 November 2017 (UTC)[reply]