TCF12microdeletion in a 72-year-old woman with intellectual disability

Maternal complex chromosomal rearrangement leads toTCF12microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability

(2014) Pauline Le Tanno et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations

(2014) Federico di Rocco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

(2014) Beatriz Paumard-Hernández et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA

(2014) Toshiyuki Yamamoto et al.   European Journal of Medical Genetics

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

(2013) Vikram P Sharma et al.   NATURE GENETICS

Craniosynostosis in a patient with a de novo 15q15-q22 deletion

(2008) Yoko Hiraki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases

(2008) Sergio Tempesta et al.   European Journal of Medical Genetics