The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1 : Is it really a reversed sotos syndrome?

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age

(2011) Han Zhang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial short stature due to a 5q22.1–q23.2 duplication refines the 5q duplication spectrum

(2011) Diana Zahnleiter et al.   European Journal of Medical Genetics

Characterization of copy number-stable regions in the human genome

(2011) Anna C.V. Johansson et al.   HUMAN MUTATION

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

(2009) Luis M Franco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

3q29 interstitial microduplication: A new syndrome in a three-generation family

(2008) Emily C. Lisi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS