P4HTM

Publications

Kaasinen E et al. Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. Eur J Med Genet. 2012;57(10):543-551. PMID: 25078763.

Maddirevula S et al. Further delineation of HIDEA syndrome. Am J Med Genet A. 2020;182(12):2999-3006. PMID: 32965080.