Clinical outcomes and neurodevelopmental outcome of prenatally diagnosed agenesis of corpus callosum in single center of Korea. [PDF]
Kim SE +9 more
europepmc +1 more source
Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity. [PDF]
Amanallah MR +3 more
europepmc +1 more source
Twins With Pathogenic <i>RNF113A</i> Variant Presenting With Testicular Regression Syndrome. [PDF]
Resnick O, Beauchamp G.
europepmc +1 more source
Radiologic Features of Curvilinear and Tubulonodular Pericallosal Lipomas: Two Case Reports. [PDF]
Diani A +4 more
europepmc +1 more source
A rare and complex presentation of congenital anomalies: meningomyelocele, corpus callosum agenesis, and dextrocardia in a neonate. [PDF]
Desai S, Hullumani S.
europepmc +1 more source
Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum. [PDF]
Shetty M +3 more
europepmc +1 more source
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics. [PDF]
Semcesen LN +11 more
europepmc +1 more source
Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review. [PDF]
Zhang Y, Shi X, Xiao X, Yuan S, Tang J.
europepmc +1 more source

