De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Reijnders, Margot R F

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. [electronic resource] - American journal of human genetics Feb 2016 - 373-81 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2015.12.015 doi


Adolescent
Base Sequence
Child
Child, Preschool
Choanal Atresia--diagnosis
Developmental Disabilities--diagnosis
Female
Genes, X-Linked
Genetic Testing
Humans
Intellectual Disability--diagnosis
Molecular Sequence Data
Mutation
Phenotype
Ubiquitin Thiolesterase--genetics
X Chromosome Inactivation
Young Adult