Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Crossref DOI link: https://doi.org/10.1186/1471-2350-15-51
Published: 2014-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Bárcena, Clea
Quesada, Víctor
De Sandre-Giovannoli, Annachiara
Puente, Diana A
Fernández-Toral, Joaquín
Sigaudy, Sabine
Baban, Anwar
Lévy, Nicolas
Velasco, Gloria
López-Otín, Carlos
unspecified valid from 2014-05-02