DiGeorge Syndrome

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. It is is characterized by cardiovascular, thymus and parathyroid defects and craniofacial anomalies. Discover the latest research on DiGeorge Syndrome here.

July 28, 2020
Case Report

22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature

Journal of Pediatric Genetics
Aderonke Oyetunji, Merlin G Butler
August 28, 2020

A Patient with 22q11.2 Deletion Syndrome Presenting with Systemic Skin Rash and Dermatopathic Lymphadenitis of Unusual Histology

The American Journal of Case Reports
Yoshiro OtsukiMitsunori Yamakawa
September 21, 2020
Open Access

A dual role for Tbx1 in cardiac lymphangiogenesis through genetic interaction with Vegfr3

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
Stefania MartuccielloElizabeth Illingworth
September 18, 2020
Open Access

Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Human Mutation
Katherine C MacKenzieMaria M Alves
September 15, 2020

Augmented autophagy suppresses thymocytes development via Bcl10/p-p65 pathway in prenatal nicotine exposed fetal mice

Ecotoxicology and Environmental Safety
Hui-Yi YanJie Ping
September 26, 2020
Case Report
Open Access

Case Report: Challenging Otologic Surgery in Patients With 22q11.2 Deletion Syndrome

Frontiers in Surgery
Emmy VerheijHans G X M Thomeer
August 9, 2020
Open Access

Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China

Molecular Genetics & Genomic Medicine
Yan WangLiangpu Xu
August 19, 2020
Open Access

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report

BMC Ophthalmology
Claudia Valencia-PeñaCésar Payán-Gómez
August 28, 2020
Open Access

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

Małgorzata Karbarz
August 29, 2020

Interaction of the craniofacial complex and velopharyngeal musculature on speech resonance in children with 22q11.2 deletion syndrome: An MRI analysis

Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS
Lakshmi KollaraJamie L Perry
July 28, 2020

Early language measures associated with later psychosis features in 22q11.2 deletion syndrome

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
Cynthia B SolotRaquel E Gur
August 5, 2020
Open Access

Abnormal Auditory Processing and Underlying Structural Changes in 22q11.2 Deletion Syndrome

Schizophrenia Bulletin
Lucia-Manuela CantonasChristoph M Michel

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