Details

Autor(en) / Beteiligte

• Dwivedi, Aradhana
• Simalti, Ashish Kumar
• Goswami, Jyotindra Narayan
• Kalra, Suprita
• Negi, Vandana

Titel

Case series: Three cases emphasizing importance of genetics in PICU

Ist Teil von

• Journal of Pediatric Critical Care, 2021-05, Vol.8 (3), p.153-156

Ort / Verlag

Wolters Kluwer Medknow Publications

Erscheinungsjahr

2021

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Individual genetic disorders are rare but cumulative prevalence of these disorders is high. Genetic diagnostic armamentarium has expanded with introduction of next generation sequencing techniques. A qualified geneticist can be of invaluable help in applying suitable genetic test and analyzing the results. We present 3 cases highlighting how involving qualified geneticist in daily round can help in detecting rare disorder even when clinical picture is not suggestive of a genetic disorder.