A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region

Growth in Phelan-McDermid syndrome

(2011) Jonathan D. Rollins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

(2011) S. M. Sarasua et al.   JOURNAL OF MEDICAL GENETICS

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

(2011) Maria Clara Bonaglia et al.   PLoS Genetics

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

(2010) S.U. Dhar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome

(2010) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings

(2010) Chih-Ping Chen et al.   European Journal of Medical Genetics

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

(2008) Heather L Wilson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association

(2008) Maria Tufano et al.   EUROPEAN JOURNAL OF PEDIATRICS

Deletion 22q13.3 syndrome

(2008) Mary C Phelan   Orphanet Journal of Rare Diseases