Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant
Béatrice Desnous(Inserm), Mathieu Milh(Inserm), Florence Riccardi(Inserm), Melissa Baravalle(Hôpital de la Timone), Benoît Testud(Hôpital de la Timone), Guillaume Carles(Hôpital de la Timone), Fedouah El‐Louali(Hôpital de la Timone), Nathalie Stremler(Hôpital de la Timone)
Cited by 2
Related Papers
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
|Nature Genetics|2010|509
Diagnosis delay in West syndrome: misdiagnosis and consequences
|European Journal of Pediatrics|2012|88
Challenges and new perspectives of developmental cognitive EEG studies
|NeuroImage|2022|49
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
|Journal of Medical Genetics|2017|41