Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
AL Bruel, B Franco, Y Duffourd, J Thevenon… - Journal of medical …, 2017 - jmg.bmj.com
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial,
oral and digital abnormalities associated with a wide range of additional features (polycystic …
oral and digital abnormalities associated with a wide range of additional features (polycystic …
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects
A Laquérriere, J Maluenda, A Camus… - Human molecular …, 2014 - academic.oup.com
Non-syndromic arthrogryposis multiplex congenita (AMC) is characterized by multiple
congenital contractures resulting from reduced fetal mobility. Genetic mapping and whole …
congenital contractures resulting from reduced fetal mobility. Genetic mapping and whole …
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome
V Darmency-Stamboul, L Burglen, E Lopez… - European journal of …, 2013 - Elsevier
Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of
malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD …
malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD …
[CITATION][C] Concept de handicap. Handicaps de l'enfant
B Chabrol, I Desguerres - Handicaps de l'enfant, 2020 - hal.science
Concept de handicap. Handicaps de l'enfant - Archive ouverte HAL Accéder directement au
contenu Documentation FR Français (FR) Anglais (EN) Se connecter HAL science ouverte …
contenu Documentation FR Français (FR) Anglais (EN) Se connecter HAL science ouverte …
[CITATION][C] Transition de la pédiatrie vers la médecine pour adultes chez les adolescents porteurs de handicap.
B Chabrol, I Desguerres - 2020 - hal.science
Transition de la pédiatrie vers la médecine pour adultes chez les adolescents porteurs de
handicap. - Archive ouverte HAL Accéder directement au contenu Documentation FR Français …
handicap. - Archive ouverte HAL Accéder directement au contenu Documentation FR Français …