Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis

Fanny Morice-Picard (1, 2) , Vincent Michaud (2) , Eulalie Lasseaux (2) , Hamid Reza Rezvani (1) , Claudio Plaisant (2) , Didier Bessis (3) , Christine Leauté-Labrèze (1, 2) , Benoit Arveiler (1, 4) , Alain Taieb (1, 2) , Aurélien Trimouille (4, 2) , Franck Boralevi (1, 2)

1 U1211 INSERM/MRGM - Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux)
2 CHU Bordeaux
3 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
4 Biothérapies des maladies génétiques et cancers

No abstract available

Domaines: Sciences du Vivant [q-bio]

Fanny Morice-Picard, Vincent Michaud, Eulalie Lasseaux, Hamid Reza Rezvani, Claudio Plaisant, et al.. Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis. Journal of Investigative Dermatology, 2020, 140, pp.1289 - 1292.e2. ⟨10.1016/j.jid.2019.10.014⟩. ⟨hal-03490218⟩