Long-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to E

Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review

(2018) Samira Spineli-Silva et al.   European Journal of Medical Genetics

Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion

(2016) Amaya Bengoa-Alonso et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

(2013) Fady M. Mikhail et al.   GENETICS IN MEDICINE

Heart defects and other features of the 22q11 distal deletion syndrome

(2012) Christina R. Fagerberg et al.   European Journal of Medical Genetics

Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis

(2011) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS