Classical Ehlers-Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of <i>COL5A2</i>.

Classical Ehlers-Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2.

Foy, Malika; de Mazancourt, Philippe; Bremond Gignac, Dominique; Gillas, Fabrice; Trigui, Nawel; Mekki, Ahmed; Carlier, Robert; Benistan, Karelle.

Affiliation

Foy M; AP-HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers-Danlos non vasculaires Garches France.
de Mazancourt P; AP-HP, GHU Paris Saclay, Hôpital Ambroise Paré, Laboratoire de Biochimie Boulogne Billancourt France.
Bremond Gignac D; INSERM, U1179, Université Versailles Saint-Quentin-en-Yvelines Montigny-le-Bretonneux France.
Gillas F; Ophthalmology Department, AP-HP, Hôpital Necker-Enfants Malades CRMR OPHTARA, Paris University Paris France.
Trigui N; INSERM, UMRS1138, Team 17 Centre de Recherche des Cordeliers, Sorbonne Paris Cité University Paris France.
Mekki A; AP-HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers-Danlos non vasculaires Garches France.
Carlier R; INSERM, U1179, Université Versailles Saint-Quentin-en-Yvelines Montigny-le-Bretonneux France.
Benistan K; AP-HP, GHU Paris-Saclay, Raymond Poincaré Teaching Hospital, DMU Smart Imaging Garches France.

Clin Case Rep ; 10(11): e06338, 2022 Nov.

Article in En | MEDLINE | ID: mdl-36447672