Partial deletion ofANKRD11results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome-Reference-Cited by-同舟云学术

Partial deletion ofANKRD11results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome

Published:2013-03-12 Issue:4 Volume:161 Page:835-840
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Khalifa Mohamed,Stein Jennifer,Grau Lance,Nelson Valery,Meck Jeanne,Aradhya Swaroop,Duby John

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35739/fullpdf

Reference11 articles.

1. KBG syndrome;Brancati;Orphanet J Rare Dis,2006

2. Twins with KBG syndrome and autism;Hah;J Autism Dev Disord,2009

3. The KBG syndrome-A syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies;Herrmann;Birth Defects Orig Artic Ser,1975

4. Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms;Isrie;Eur J Hum Genet,2012

5. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome;Sacharow;Am J Med Genet Part A,2012

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1. KBG syndrome: report and follow-up on three unrelated patients observed at different ages;2024-06-07

2. Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype: A case report;World Journal of Medical Genetics;2023-06-02

3. Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome;American Journal of Medical Genetics Part A;2023-01-11

4. Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients;Journal of Medical Genetics;2022-11-29

5. Natural history of KBG syndrome in a large European cohort;Human Molecular Genetics;2022-07-21