Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Lindstrand, Anna

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. [electronic resource] - Journal of medical genetics Jan 2014 - 45-54 p. digital

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

1468-6244

10.1136/jmedgenet-2013-101937 doi


Animals
Comparative Genomic Hybridization
Cyclic Nucleotide Phosphodiesterases, Type 4--genetics
Developmental Disabilities--diagnosis
Dysostoses--diagnosis
Facies
Female
Gene Deletion
Gene Expression
Gene Order
Genetic Association Studies
Humans
Intellectual Disability--diagnosis
Male
Mutation
Osteochondrodysplasias--diagnosis
Phenotype
Point Mutation
Zebrafish--genetics