title: Congenital Cataracts, Facial Dysmorphism, and Neuropathy Syndrome: Additional Clinical Features.
authors.affiliation: First Department of Pediatrics, National and Kapodistrian University of Athens, Medical School, Aghia Sophia Children's Hospital, Athens, Greece. Electronic address: evanthia.makrygianni@hotmail.com.
authors.forename: Evanthia A
authors.initials: EA
authors.lastname: Makrygianni
authors.affiliation: Department of Neurology, National and Kapodistrian University of Athens, Medical School, Aeginition Hospital, Athens, Greece.
authors.forename: George K
authors.initials: GK
authors.lastname: Papadimas
authors.affiliation: Second Department of Pediatrics, National and Kapodistrian University of Athens, School of Medicine, P. & A. Kyriakou Children's Hospital, Athens, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Vartzelis
authors.affiliation: Department of Clinical Neurophysiology, Metropolitan Hospital, Athens, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Georgala
authors.affiliation: Department of Medical Genetics, National and Kapodistrian University of Athens, Medical School, Athens, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Tzetis
authors.affiliation: Department of Medical Genetics, National and Kapodistrian University of Athens, Medical School, Athens, Greece.
authors.forename: Myrto
authors.initials: M
authors.lastname: Poulou
authors.affiliation: Department of Medical Genetics, National and Kapodistrian University of Athens, Medical School, Athens, Greece.
authors.forename: Sophia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.affiliation: First Department of Pediatrics, National and Kapodistrian University of Athens, Medical School, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Roser
authors.initials: R
authors.lastname: Pons
mesh_terms: D009202:Cardiomyopathies / Q000209:etiology*; D002386:Cataract / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000209:etiology*; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D010749:Phosphoprotein Phosphatases / Q000235:genetics; D035781:Siblings; D013577:Syndrome
chemical_list: D010749:Phosphoprotein Phosphatases; C116022:carboxy-terminal domain phosphatase