Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk, Mateusz

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. [electronic resource] - European journal of human genetics : EJHG May 2015 - 633-8 p. digital

Publication Type: Case Reports; Journal Article

1476-5438

10.1038/ejhg.2014.109 doi


Abnormalities, Multiple--diagnosis
Adolescent
Amino Acid Sequence
Cell Line
Child
Comparative Genomic Hybridization
Craniofacial Abnormalities--diagnosis
Dandy-Walker Syndrome--diagnosis
Exome
Gene Expression
Genes, X-Linked
Genetic Association Studies
Heart Septal Defects, Atrial--diagnosis
High-Throughput Nucleotide Sequencing
Humans
Intellectual Disability--diagnosis
Male
Molecular Sequence Data
Mutation, Missense
Pedigree
Phenotype
Proteins--chemistry
Sequence Alignment