Laurana de Polli Cellin

Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.

Y. Alanay, S. Ceylaner, K. Heath, 2023, European journal of human genetics : EJHG.

Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.

A. Lerário, A. C. Victorino Krepischi, R. Rezende, 2023, The Journal of pediatrics.