Fryer, A.

patient mutation tcf 4 g 358v mutation breathing anomalies syndrome anomaly protein retardation genet genetic group.bmj.com letter missense mutation domain missense department novel study tcf 4 gene month breathing position deletion pitt-hopkins syndrome exon 14 zweier article aggregation tendency aggregation bhlh domain transcript tcf 4 mutations friedrich-alexander university erlangen-nuremberg university factor crease 117 patients interaction jmg.bmj.com hospital seizure downloaded group.bmj.com letter phenotype transcription 4/4 spectrum myopia frameshift splice-site sequence 16 novel mutations pitt –hopkins syndrome mouth transcriptional reporter assay hotspot feature evidence transcriptional activity transcriptional patient 12 table corpus callosum fig 3 b amiel testing tcf 4 expression caudate nuclei missense mutations microcephaly parietal cortex 2 2 2 stereotypie palmar analysis control region motif pitt-hopkin