Talk:Coffin–Lowry syndrome

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 Coffin–Lowry 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

"Males usually carry this disease more often than females because males only have one X chromosome, while females have two." Just a thought, but is 'carry' the right word to use here? This sentence seems to be addressing the genetics of the disease and I was under the impression that to 'carry' something in genetics meant something like to contain the causal variant within one's genome without expressing the phenotype ie. the disease. Maybe something like "There are usually more male than female sufferers because males only have one X chromosome, while females have two." would work better? What do people think? 163.1.64.145 16:36, 13 November 2007 (UTC)[reply]

My recent edits

I see this article is partly translated from the French article. I've had a bit of a go at re-adjusting some of the language so it reads a little more naturally in English. This section doesn't make sense to me:

Neurology and comportment

often describe as funny but it's not constant. This pathology is also responsible of brutal fall without lucidity lost when visual and auditory stimulis. This affects about 20% of the patients.

Can anyone shed some light on how that ought to be translated?

I'm in two minds about what to do with this sentence:

A new mutation means that neither parent has the altered gene, but the affected individual could pass it on to his children.

Since this is an X-linked disease, technically an affected male could only pass this on to his daughters. Do people think I should edit the text to reflect this or would that confuse the matter? Another way round it would be to edit the male 'his' to be gender neutral 'their'. Trouble is, most sufferers seem (from the article) to be male. What do people think? 163.1.181.208 (talk) 21:50, 17 January 2008 (UTC)[reply]

Multiple sub-sections of this article including "symptoms" and "prognosis" lack any citations to external references. Additionally, information within these sections is vague and minimal. I believe this article would benefit from adding a greater variety of sources including relevant research articles easily found within medical and genetics journals. This would strengthen the depth and reliability of the wikipedia page. Secondly, I feel the flow of the article's sub-headings could be improved and that coverage of topics concerning the syndrome is unbalanced. Adding sections focusing on the pathogenesis, genetic basis, and symptomatic physiology of the genetic syndrome would broaden the scope of information presented as well as strengthen the page as a comprehensive, yet concise, reference for readers.EmilyRife (talk) 02:56, 8 November 2016 (UTC)[reply]