A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Martínez-Garay, Isabel

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. [electronic resource] - European journal of human genetics : EJHG Jan 2007 - 29-34 p. digital

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

1018-4813

10.1038/sj.ejhg.5201717 doi


Abnormalities, Multiple--genetics
Adult
Carrier Proteins--genetics
Child, Preschool
Chromosomes, Human, X
DNA-Binding Proteins
Female
Frameshift Mutation
Gene Deletion
Genes, X-Linked
Genetic Diseases, X-Linked--genetics
Humans
Intellectual Disability--genetics
Male
Microcephaly--genetics
Microphthalmos--genetics
Nuclear Proteins--genetics
Pedigree
Syndrome