NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

Antzeko izenburuak

• Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
  nork: Park, Kyung-Hee, et al.
  Argitaratua: (2010)
• Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
  nork: Kuzniacka, Alina, et al.
  Argitaratua: (2012)
• De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome
  nork: Thanh, Duong Chi, et al.
  Argitaratua: (2020)
• Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
  nork: Mende, Rose H., et al.
  Argitaratua: (2012)
• Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
  nork: Wierzba, Jolanta, et al.
  Argitaratua: (2012)