Phenotypes and genotypes in individuals with SMC1A variants.

Huisman, Sylvia

Phenotypes and genotypes in individuals with SMC1A variants. [electronic resource] - American journal of medical genetics. Part A Aug 2017 - 2108-2125 p. digital

Publication Type: Journal Article

1552-4833

10.1002/ajmg.a.38279 doi


Adolescent
Adult
Cell Cycle Proteins--genetics
Child
Child, Preschool
Chromosomal Proteins, Non-Histone--genetics
De Lange Syndrome--diagnosis
Exome--genetics
Humans
Infant
Infant, Newborn
Male
Middle Aged
Netherlands--epidemiology
Proteins--genetics
Rett Syndrome--diagnosis
Spasms, Infantile--diagnosis
Young Adult
Structural Maintenance of Chromosome Protein 1