When extended genetics rescues diagnosis: a patient with CANDLE-like phenotype and de novo mutation in the SAMD9L gene.
Amandine RemyCharlotte BoroccoGuillaume SarrabayGuilaine BoursierSylvie FraitagBenoit CatteauHéloise ReumauxIsabelle Kone-PautPublished in: Annals of the rheumatic diseases (2021)