Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome

Frints, Suzanna GM; Froyen, Guido; Marynen, Peter; Willekens, Diane; Legius, Eric; Fryns, Jean-Pierre

doi:10.1002/ajmg.10628

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome

Author:

Frints, Suzanna GM

Froyen, Guido ; Marynen, Peter ; Willekens, Diane ; Legius, Eric ; Fryns, Jean-Pierre

Keywords:

Aged, Chromosomes, Human, X, Dystonia, Family Health, Female, Homeodomain Proteins, Humans, Linkage (Genetics), Male, Mental Retardation, Middle Aged, Nervous System Diseases, Pedigree, Transcription Factors, Tremor, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, supernumerary digital flexion creases, Alagille syndrome, EXPRESSION, FREQUENCY, DYSPLASIA, JAGGED1, FACIES, PALMAR, Genetic Linkage, Intellectual Disability, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences