A Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome

Ähnliche Einträge

• Prenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and MED11 Variants
  von: Cong Zhou, et al.
  Veröffentlicht: (2024)
• Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin–Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features
  von: Rachel A. Veazey, et al.
  Veröffentlicht: (2024)
• How Are SNP‐Array, Karyotyping, and FISH Applied in Prenatal Practice? A Focus on Diagnosis of Mosaicism Involving the Sex Chromosomes
  von: Xiaojin Luo, et al.
  Veröffentlicht: (2026)
• Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies
  von: Natalie Burrill, et al.
  Veröffentlicht: (2025)
• A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma
  von: Shiyu Chen, et al.
  Veröffentlicht: (2026)