Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia

‘Complexities of #genetic diagnosis illustrated by an #atypical case of #congenital #hypoplastic #anemia’ an article on #ScienceOpen: https://t.co/pMCNpyGx4F

RT @molcasestud: New @molcasestud Rapid Communication- Claassen and colleagues identified compound heterozygous pathogenic mutations in the…

New @molcasestud Rapid Communication- Claassen and colleagues identified compound heterozygous pathogenic mutations in the ADA2-encoding CECR1 gene in a 6-yr-old boy with a clinical diagnosis of DBA @StJude #PrecisionMedicine https://t.co/P8YtfdId7G

Diamond–Blackfan Anemia (DBA) は常染色体性潜性遺伝形式をとります。David Claassen氏らはwhole-exome sequencing (WES) をアレンジしてcompound heterozygous pathogenic mutations in the ADA2-encoding CECR1 geneを診断した過程を報告してます。 https://t.co/jsREZ4jk…