title: Expanding the phenotype associated with missense mutations of the ARX gene.
authors: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. agnieszka.charzewska@imid.med.pl
authors: Agnieszka
authors: A
authors: Charzewska
authors: Magdalena
authors: M
authors: Nawara
authors: Anna
authors: A
authors: Jakubiuk-Tomaszuk
authors: Ewa
authors: E
authors: Obersztyn
authors: Dorota
authors: D
authors: Hoffman-Zacharska
authors: Ewelina
authors: E
authors: Elert
authors: Marta
authors: M
authors: Jurek
authors: Magdalena
authors: M
authors: Bartnik
authors: Jarosław
authors: J
authors: Poznański
authors: Jerzy
authors: J
authors: Bal
mesh_terms: D000293:Adolescent; D000328:Adult; D004421:Dystonia / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011061:Poly A; D011247:Pregnancy; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors; D011061:Poly A