Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in <scp><i>MAFB</i></scp>
Giulia Pascolini(Istituto Dermopatico dell'Immacolata), Paola Grammatico, Niccolò Di Giosaffatte(Carlo Forlanini Hospital), Giovanni Chillemi(Università degli Studi della Tuscia), Chiara Passarelli(Bambino Gesù Children's Hospital), Martina Lipari(Carlo Forlanini Hospital), Balasubramanian Chandramouli(Cineca), Antonio Novelli(Bambino Gesù Children's Hospital)
Cited by 5
Related Papers
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes
|Neurology|2016|122
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients
|American Journal of Medical Genetics Part A|2012|104
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers–danlos syndrome, hypermobility type
|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2015|94
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
|Genetics in Medicine|2021|90
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees
|American Journal of Medical Genetics Part A|2014|79