H. González-Pecellín

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2018, Genetics in Medicine.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2017, bioRxiv.

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2017, Clinical genetics.