Add to ORKGLe syndrome Kabuki (SK) est caractérisé par des traits morphologiques du visage caractéristiques, des anomalies squelettiques et viscérales, une déficience intellectuelle et un retard de croissance (RC). Son diagnostic reste difficile malgré la découverte récente des bases moléculaire du KS due à des mutations des gènes KMT2D et KDM6A. L'établissement d'un diagnostic étiologique précis permet une prise en charge (PEC) médico·socio·éducative adaptée au patient. L'identification du SK permet de prévenir et de dépister à temps les nombreuses complications associées à ce syndrome (obésité, surdité, manifestations auto-immunes, RC postnatal, déficit en hormone de croissance (GH) et épilepsie). Les objectifs de ce travail sont d'identifier de nou...
Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have ...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Le syndrome de Kabuki a été décrit pour la première fois en 1981 par les médecins japonais Niikawa e...
Introduction: Kabuki syndrome is a rare genetic disorder characterized by mental retardation and typ...
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental re...
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental re...
Le syndrome Kabuki associe dysmorphie faciale, anomalies squelettiques, déficience intellectuelle et...
Kabuki syndrome (KS) is a dominantly inherited rare disease caused mainly by de novo pathogenic vari...
Kabuki syndrome (KS) is a dominantly inherited rare disease caused mainly by de novo pathogenic vari...
: Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, d...
lntroduction: Kabuki syndrome (KS) is a rare congenital anomaly first described in Japan in 1981 by ...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have ...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Le syndrome de Kabuki a été décrit pour la première fois en 1981 par les médecins japonais Niikawa e...
Introduction: Kabuki syndrome is a rare genetic disorder characterized by mental retardation and typ...
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental re...
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental re...
Le syndrome Kabuki associe dysmorphie faciale, anomalies squelettiques, déficience intellectuelle et...
Kabuki syndrome (KS) is a dominantly inherited rare disease caused mainly by de novo pathogenic vari...
Kabuki syndrome (KS) is a dominantly inherited rare disease caused mainly by de novo pathogenic vari...
: Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, d...
lntroduction: Kabuki syndrome (KS) is a rare congenital anomaly first described in Japan in 1981 by ...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have ...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dys...