01:3701:37, 11 June 2019diffhist−2
m
American Journal of Human Genetics
I updated this to the current editor - this is public knowledge on the web page of the journal - go to main page (per link in this entry) then to the menu and pull down "Staff and Editorial Board". Also, if you want a citation, there is a press release for his appointment: https://www.ashg.org/press/201609-AJHG-editor-Korf.html
21:3121:31, 29 May 2018diffhist−111
Proteus syndrome
Hi - Not sure I did this right, but I did two serial changes. One to add a photo, then I saw it was appearing in the wrong place, so I swapped it in for the one that needs to be deleted.
21:1621:16, 29 May 2018diffhist+208
Proteus syndrome
I think it is fair to say that I am the most knowledgeable physician regarding this disorder, but I have never seen a patient with confirmed Proteus syndrome who appears anything like the man in this picture. I strongly urge that that image be deleted until his diagnosis is confirmed. I have provided a substitute photograph of a patient with typical features who has been molecularly confirmed to have this disease. Also, two references listed separately were the same.
22:1622:16, 16 January 2018diffhist+2,560
Pallister–Hall syndrome
Added details crediting the discovery to the group who first published it and added three citations to publications in the biomedical literature. Also added info on diagnostic criteria.
02:5302:53, 18 December 2015diffhist+695
Proteus syndrome
Hi - I added a description of a new trial that has opened at NIH, cited the Clinical Trials.gov web page for the trial and the scientific article that supports the trial.
1 July 2013
21:2121:21, 1 July 2013diffhist+595
Malignant hyperthermia
I added another definition of the abbrev. "MHS" and updated the content a bit to reflect that this is a gene environment interaction, added a note from GeneReviews that suggests exertion and heat may trigger an event.
14 February 2013
00:0100:01, 14 February 2013diffhist−22
Schimmelpenning syndrome
Proteus syndrome is not a synonym for this disorder - it is clinically distinct and caused by mutations in a different gene. I suspect some of the other entities listed as synonyms are also not correct, but I am not an expect in those.
01:3701:37, 11 June 2019diffhist−2
m
American Journal of Human Genetics
I updated this to the current editor - this is public knowledge on the web page of the journal - go to main page (per link in this entry) then to the menu and pull down "Staff and Editorial Board". Also, if you want a citation, there is a press release for his appointment: https://www.ashg.org/press/201609-AJHG-editor-Korf.html
21:3121:31, 29 May 2018diffhist−111
Proteus syndrome
Hi - Not sure I did this right, but I did two serial changes. One to add a photo, then I saw it was appearing in the wrong place, so I swapped it in for the one that needs to be deleted.
21:1621:16, 29 May 2018diffhist+208
Proteus syndrome
I think it is fair to say that I am the most knowledgeable physician regarding this disorder, but I have never seen a patient with confirmed Proteus syndrome who appears anything like the man in this picture. I strongly urge that that image be deleted until his diagnosis is confirmed. I have provided a substitute photograph of a patient with typical features who has been molecularly confirmed to have this disease. Also, two references listed separately were the same.
22:1622:16, 16 January 2018diffhist+2,560
Pallister–Hall syndrome
Added details crediting the discovery to the group who first published it and added three citations to publications in the biomedical literature. Also added info on diagnostic criteria.
02:5302:53, 18 December 2015diffhist+695
Proteus syndrome
Hi - I added a description of a new trial that has opened at NIH, cited the Clinical Trials.gov web page for the trial and the scientific article that supports the trial.
1 July 2013
21:2121:21, 1 July 2013diffhist+595
Malignant hyperthermia
I added another definition of the abbrev. "MHS" and updated the content a bit to reflect that this is a gene environment interaction, added a note from GeneReviews that suggests exertion and heat may trigger an event.
14 February 2013
00:0100:01, 14 February 2013diffhist−22
Schimmelpenning syndrome
Proteus syndrome is not a synonym for this disorder - it is clinically distinct and caused by mutations in a different gene. I suspect some of the other entities listed as synonyms are also not correct, but I am not an expect in those.