A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. [electronic resource]
Producer: 20070329Description: 29-34 p. digitalISSN:- 1018-4813
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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