Prenatal Diagnosis of Primrose Syndrome

Prenatal agenesis of corpus callosum and diagnostic yield with exome sequencing, systematic review and metanalysis

(2023) Hiba J. Mustafa et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Prenatal exome sequencing in fetuses with callosal anomalies

(2022) Ting‐ying Lei et al.   PRENATAL DIAGNOSIS

Primrose syndrome: Characterization of the phenotype in 42 patients

(2020) Daniela Melis et al.   CLINICAL GENETICS

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

(2019) Ruth Cleaver et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants

(2019) Laura D. Ferreira et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

(2018) Caroline Alby et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole Exome Sequencing

(2018) Angie C. Jelin et al.   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

Zbtb20 promotes astrocytogenesis during neocortical development

(2016) Motoshi Nagao et al.   Nature Communications

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

(2015) Suzanne Drury et al.   PRENATAL DIAGNOSIS

Mutations in ZBTB20 cause Primrose syndrome

(2014) Viviana Cordeddu et al.   NATURE GENETICS

Regulation of archicortical arealization by the transcription factor Zbtb20

(2012) Eva H. Rosenthal et al.   HIPPOCAMPUS

MOTOR TICS, STEREOTYPIES, AND SELF-FLAGELLATION IN PRIMROSE SYNDROME

(2010) P. Dalal et al.   NEUROLOGY