CLI VIDEO ON YOUTUBE
The French Skin Federation (FFP) has launched videos (in French) from its member organisations on youtube.
Listen to Marie-Claude Boiteux talking about Cutis Laxa Internationale
Dawn Laney, a RARE Hero
In its issue N°15, April 2020, Rare Revolution Magazine, talks about Dawn Laney, Dave Jacob’s daughter, who set up Thinkgenetic with her father. Dave is one of our members.
David Ross, a RARE revolutionary
In its issue N°15, april 2020, Rare Revolution Magazine publishes an interview with David Ross, one of our members.
ZEYNEP’S STORY
Video on SHOW TV, on facebook, about Zeynep diagnosed with Cutis Laxa
(In Turkish)
2019.12.10
Watch the video :
2 Yaşındaki Zeynep "Yaşlanma Hastalığı" ile mücadele ediyor! #ZahideYetişle
2 Yaşındaki Zeynep "Yaşlanma Hastalığı" ile mücadele ediyor! #ZahideYetişle
Publiée par Show TV sur Mardi 10 décembre 2019
Cécile suffers from a rare genetic disorder
CAFFE.ch, swiss online magazine (in Italian)
2019.05.05
Read the article on line :
http://www.caffe.ch/stories/Storie/62873_ho_appena_28_anni_ne_dimostro_il_doppio/
I AM 28, BUT MY SKIN LOOKS LIKE 65
L’illustré, swiss newspaper (in French)
2019.02.06
Watch the video : https://www.facebook.com/1081337022/posts/10215330750396949/
Read the article : https://www.cutislaxa.org/wp-content/uploads/2020/02/lillustre-2019.02.06.pdf
A New Type of Cutis Laxa
In March, the American Journal of Medecine Genetics published an article showing that a mutation on the gene PTDSS1 leads to a very rare type of Cutis Laxa : Lenz-Majewski Syndrome (LMS) . It includes Cutis Laxa with growth delay, dwarfism and intellectual delay. According to this study of 3 cases, this is a new type of Cutis Laxa that needs to be added to those already identified.
New mutations (ATP6V1E1, ATP6V1A)
ATP6V1E1 or ATP6V1A, are the new mutations recently published by a team of researchers including, among others, les nouvelles mutations publiées par une équipe de chercheurs incluant, entre autres, Mmes Gardeitchik, Mohammed, De Paepe, Malfait and Morava as well as Messrs Kornak, Wevers and Callewaert, who are researchers we are in contact with.
Those mutations can be included in Autosomal Recessive Cutis Laxa type 2 (ARCL2). They lead to Glycosylation Abnormalities (CDGs).