Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly

Documenti analoghi

• Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis
  di: Adi Botvinik, et al.
  Pubblicazione: (2026)
• A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing
  di: Dorin Trigubov, et al.
  Pubblicazione: (2025)
• Identification of a Mosaic Variant in the SYNCRIP Gene Causing Foetal Periventricular Nodular Heterotopia, Abnormal Sulcation and Infratentorial Anomaly
  di: Roee Birnbaum, et al.
  Pubblicazione: (2024)
• Fetal Macrocephaly: Prenatal Findings and Follow‐Up in Cases With High Risk for Abnormal Outcome
  di: Hadas Miremberg, et al.
  Pubblicazione: (2025)
• Fetal Pancreas in Growth Restriction: A Prenatal Window Into Metabolic and Genetic Risk
  di: Hadas Miremberg, et al.
  Pubblicazione: (2025)