A microdeletion encompassingPHF21Ain an individual with global developmental delay and craniofacial anomalies

De novoANKRD11andKDM1Agene mutations in a male with features of KBG syndrome and Kabuki syndrome

(2014) Sanjin Tunovic et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The historical Coffin-Lowry syndrome family revisited: Identification of two novel mutations ofRPS6KA3in three male patients

(2014) Hiromi Koso Nishimoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microdeletion syndromes

(2013) Gemma L Carvill et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

(2012) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia

(2012) Nathan D. Montgomery et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Understanding variable expressivity in microdeletion syndromes

(2010) Joris A Veltman et al.   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS