Mutations in the PQBP1 gene (polyglutamine-binding protein-1) are responsible for a
syndromic X-linked form of neurodevelopmental disorder (XL-NDD) with intellectual …

Mutations in the polyglutamine tract-binding protein 1 (PQBP1) gene are associated with
Renpenning syndrome, which is characterized by microcephaly, intellectual deficiency, short …

D Germanaud, M Rossi, G Bussy, D Gérard, L Hertz‐Pannier, P Blanchet, H Dollfus, F
Giuliano, V Bennouna‐Greene, P Sarda, S Sigaudy, A Curie, MC Vincent, R Touraine, V des …

Mutations in the PQBP1 gene are associated with Renpenning syndrome (RENS1, MIM#
309500). Most cases are characterized by intellectual disability, but a detailed …

Renpenning syndrome is a group of X-linked intellectual disability syndromes caused by
mutations in human polyglutamine-binding protein 1 (PQBP1) gene. Little is known about …

X chromosome-linked intellectual disability is a common developmental disorder, and
mutations of the polyglutamine-binding protein 1 (PQBP1) gene have been linked to this …

Group 1 metabotropic glutamate receptors (Gp1 mGluRs), comprising mGluR1 and mGluR5,
are predominantly located at postsynaptic terminals. Gp1 mGluRs induce the activation of …

Renpenning syndrome is a well‐described X‐linked condition associated with multiple
congenital anomalies and intellectual disability [OMIM 309500]. Typical signs include …

Renpenning syndrome is an X-linked intellectual disability syndrome caused by mutations in
the human polyglutamine binding protein 1 (PQBP1) gene characterized by intellectual …

Recently, the polyglutamine‐binding protein 1 (PQBP1) gene was found to be mutated in
five of 29 families studied with X‐linked mental retardation (XLMR) linked to Xp. The …