Condition: Anus, Imperforate


rs1060499548 in ABL1 gene and Anus, Imperforate PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs869320624 in EMC1-AS1;EMC1 gene and Anus, Imperforate 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.