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A homozygous loss-of-function mutation in PTPN14 causes a s..:

Bordbar, A ; Maroofian, R ; Ostergaard, P...
Bordbar, A. and Maroofian, R. and Ostergaard, P. and Kashaki, M. and Nikpour, S. and Gordon, K. and Crosby, A. and Khosravi, P. and Shojaei, A. (2017) A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema: PTPN14 mutation in lymphedema-choanal atresia. Meta Gene, 14. pp. 53-58..  , 2017