Delineation of the clinical phenotype associated withOPHN1 mutations based on the clinical and neuropsychological evaluation of three families
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference13 articles.
1. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
2. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
3. Cerebellar hypoplasia and frontal lobe cognitive deficits in disorders of early childhood
4. Specific clinical and brain MRI features in mentally retarded patients with mutations in theOligophrenin-1 gene
5. . 1993. K-ABC: Batterie pour l'examen psychologique de l'enfant. Paris: Les Editions du Centre de Psychologie Appliquée.
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1. A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay;Gene Reports;2022-06
2. Oligophrenin-1 moderates behavioral responses to stress by regulating parvalbumin interneuron activity in the medial prefrontal cortex;Neuron;2021-05
3. Prenatal Diagnosis by Fetal Magnetic Resonance Imaging;Genetic Disorders and the Fetus;2021-04-20
4. Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability;Medicine;2020-08-14
5. Expanding the phenotypic spectrum associated with OPHN1 variants;European Journal of Medical Genetics;2019-02
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