SHORT syndrome with microcephaly and developmental delay
Article in American Journal of Medical Genetics Part A (December 2022)
The most recent citing publications are shown below. View all 19 publications that cite this research output on Dimensions.
Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance
Article in Allergologia et Immunopathologia (July 2022)
SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype
Article in The Cleft Palate-Craniofacial Journal (July 2021)