Aggarwal, Anjali

Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. [electronic resource] - European journal of medical genetics Jun 2017 - 285-288 p. digital

Publication Type: Case Reports; Journal Article; Review

1878-0849

10.1016/j.ejmg.2017.03.006 doi


Abnormalities, Multiple--diagnosis
Child
Exome
Genotype
Histone-Lysine N-Methyltransferase--genetics
Humans
Intellectual Disability--diagnosis
Male
Mutation
Myeloid-Lymphoid Leukemia Protein--genetics
Phenotype
Syndrome