Prenatal diagnosis of a 172-kb familial 2q23.1 microdeletion encompassing part of the MBD5 gene associated with no apparently phenotypic abnormality in the family carrier members

Registos relacionados

• Prenatal diagnosis of a familial 1p36.33 microduplication and 4q35.1q35.2 microdeletion associated with no apparently phenotypic abnormality in the family carrier members and the fetus
  Por: Chih-Ping Chen
  Publicado em: (2025-09-01)
• Prenatal diagnosis of a 172-kb familial 2q23.1 microdeletion encompassing part of the MBD5 gene associated with no apparently phenotypic abnormality in the family carrier members
  Por: Chih-Ping Chen
  Publicado em: (2026-07-01)
• Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
  Por: Gefei Xiao, et al.
  Publicado em: (2021-11-01)
• Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
  Por: Annika E Schlaweck, et al.
  Publicado em: (2019-01-01)
• Prenatal diagnosis of a familial 15q13.1q13.2 microdeletion encompassing APBA2, ENTREP2, NSMCE3 and TJP1 without apparently phenotypic abnormality in the neonate and the family carrier members in three generations
  Por: Chih-Ping Chen
  Publicado em: (2026-03-01)