American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A Journal

Publication venue for

Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum. 185:2153-2159. 2021
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. 182:962-973. 2020
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. 182:1426-1437. 2020
MISSENSE MUTATIONS IN MAF CAUSE FINE-LUBINSKY SYNDROME. 167:1726-1727. 2015
Familial Ebstein Anomaly, Left Ventricular Hypertrabeculation, and Ventricular Septal Defect Associated With a MYH7 Mutation. 161:3187-3190. 2013
Investigation of NRXN1 deletions: Clinical and molecular characterization. 717-731. 2013
Distinctive Phenotype in 9 Patients With Deletion of Chromosome 1q24-q25. 1336-1351. 2011

International Standard Serial Number (ISSN)

1552-4825