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Journal Article
Schaefer, Elise, Collet, Corinne, Genevieve, David, Vincent, Marie 
ORCID: 0000-0003-1010-5618, Lohmann, Dietmar R. ORCID: 0000-0002-2624-9889, Sanchez, Elodie, Bolender, Chantal, Eliot, Marie-Madeleine, Nuernberg, Gudrun, Passos-Bueno, Maria-Rita, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Van Maldergem, Lionel ORCID: 0000-0001-8880-5214 and Doray, Berenice
(2014).
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Genet. Med., 16 (9).
S. 720 - 725.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1530-0366