Clin Case Rep. 2023 Jul 30;11(8):e7753. doi: 10.1002/ccr3.7753. eCollection 2023 Aug.
ABSTRACT
We report two, genotypically identical but phenotypically distinct cases of Schaaf-Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis of children with rare genetic diseases and improve overall health care outcomes.
PMID:37529132 DOI:10.1002/ccr3.7753