Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

Lenski, Claus

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. [electronic resource] - American journal of human genetics Apr 2004 - 777-80 p. digital

Publication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0002-9297

10.1086/383205 doi


Abnormalities, Multiple--genetics
Amino Acid Sequence
Base Sequence
Carrier Proteins
DNA-Binding Proteins
Female
Genetic Diseases, X-Linked--genetics
Humans
Intellectual Disability--complications
Male
Microcephaly--complications
Molecular Sequence Data
Mutation--genetics
Nuclear Proteins--chemistry
Pedigree
Syndrome