학술논문
Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype.
Document Type
Case Study
Author
Source
Subject
*PHENOTYPES
*GENOTYPES
*NUCLEOTIDE sequencing
*WHOLE genome sequencing
*SYNDROMES
*
*
*
*
Language
ISSN
2050-0904
Abstract
Key Clinical Message: 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. [ABSTRACT FROM AUTHOR]