about
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeA defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardationComplex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndromeCGHPRO -- a comprehensive data analysis tool for array CGH.Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophreniaDisruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndromePierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
P50
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P50
description
onderzoeker
@nl
name
Reinhard Ullmann
@ast
Reinhard Ullmann
@en
Reinhard Ullmann
@es
Reinhard Ullmann
@sl
type
label
Reinhard Ullmann
@ast
Reinhard Ullmann
@en
Reinhard Ullmann
@es
Reinhard Ullmann
@sl
prefLabel
Reinhard Ullmann
@ast
Reinhard Ullmann
@en
Reinhard Ullmann
@es
Reinhard Ullmann
@sl