Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. [electronic resource]
- Human mutation Jun 2015
- 631-7 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural
1098-1004
10.1002/humu.22786 doi
Adult Alleles Biliary Atresia--diagnosis DNA Copy Number Variations Facies Female Genetic Association Studies Genotype Hepatocyte Nuclear Factor 3-beta--genetics Heterotaxy Syndrome--diagnosis Heterozygote Humans Hypopituitarism--diagnosis Infant Male Pedigree Phenotype Sequence Analysis, DNA Sequence Deletion