TY  - GEN
AU  - Martínez-Garay,Isabel
AU  - Tomás,Miguel
AU  - Oltra,Silvestre
AU  - Ramser,Juliane
AU  - Moltó,Maria D
AU  - Prieto,Félix
AU  - Meindl,Alfons
AU  - Kutsche,Kerstin
AU  - Martínez,Francisco
TI  - A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation
SN  - 1018-4813
PY  - 2007///0329
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adult
KW  - Carrier Proteins
KW  - Child, Preschool
KW  - Chromosomes, Human, X
KW  - DNA-Binding Proteins
KW  - Female
KW  - Frameshift Mutation
KW  - Gene Deletion
KW  - Genes, X-Linked
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Microcephaly
KW  - Microphthalmos
KW  - Nuclear Proteins
KW  - Pedigree
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.ejhg.5201717
ER  -