Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

• Autorzy: Smigiel R. , Bezniakow N. , Jakubiak A. , Bloch M. , Patkowski D. , Obersztyn E. , Sasiadek M. M.
• Języki publikacji: EN

Abstrakty

EN

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2015
• Tom: 56
• Numer: 2
• Opis fizyczny: p.199-204,fig.,ref.

Twórcy

autor

Smigiel R.

• Department of Social Pediatrics, Wroclaw Medical University, Wroclaw, Poland

autor

Bezniakow N.

• Department of Medical Genetics, Mother and Child Institute, Warsaw, Poland

autor

Jakubiak A.

• Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland

autor

Bloch M.

• Department of Social Pediatrics, Wroclaw Medical University, Wroclaw, Poland

autor

Patkowski D.

• Department of Pediatric Surgery and Urology, Wroclaw Medical University, Wroclaw, Poland

autor

Obersztyn E.

• Department of Medical Genetics, Mother and Child Institute, Warsaw, Poland

autor

Sasiadek M. M.

• Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland

Identyfikatory

DOI

10.1007/s13353-014-0255-4