Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants - case report and literature review

• Autorzy: Wojciechowska K. , Kwasny M. , Pietrzyk A. , Lejman M.
• Języki publikacji: EN

Abstrakty

EN

• Wydawca: -
• Czasopismo: Annals of Agricultural and Environmental Medicine
• Rocznik: 2024
• Tom: 31
• Numer: 1
• Opis fizyczny: p.147-150,fig.,ref.

Twórcy

autor

Wojciechowska K.

• Independent Laboratory of Genetic Diagnostics, Medical University, Lublin, Poland

autor

Kwasny M.

• Department of Children’s Haematology, Oncology and Transplantology, Children’s University Hospital, Lublin, Poland

autor

Pietrzyk A.

• MedGen Medical Centre, Warsaw, Poland

autor

Lejman M.

• Independent Laboratory of Genetic Diagnostics, Medical University, Lublin, Poland

Identyfikatory

DOI

10.26444/aaem/175610