Condition: Laryngotracheomalacia


rs869320624 in EMC1-AS1;EMC1 gene and Laryngotracheomalacia PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

rs527656756 in MTA3;HAAO gene and Laryngotracheomalacia PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.