Tatton-Brown-Rahman syndrome due to 2p23 microdeletion

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1

(2014) Mercedes Bloch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

(2014) Katrina Tatton-Brown et al.   NATURE GENETICS

The NSD 1 and EZH 2 Overgrowth Genes, Similarities and Differences

(2013) KATRINA TATTON-BROWN et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy

(2012) Moneef Shoukier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

(2012) Maria Santa Rocca et al.   European Journal of Medical Genetics

De Novo Interstitial Deletion of Chromosome 2 (p23p24)

(2011) Pen-Hua Su et al.   Pediatrics and Neonatology

Proximal interstitial 1p36 deletion syndrome: The most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2)

(2008) Keiko Shimojima et al.   BRAIN & DEVELOPMENT