The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33991/fullpdf
Reference25 articles.
1. Recurrent 200 kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity;Bachmann-Gagescu;Genet Med,2010
2. Macrocephaly, facial abnormalities, disproportionate tall stature, and mental retardation-A sib observation;Bakker;Am J Med Genet,1997
3. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2;Ballif;Nat Genet,2007
4. Further characterization of the new microdeletion syndrome of 16p11.2-p12.2;Battaglia;Am J Med Genet Part A,2009
5. Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals;Bijlsma;Eur J Med Genet,2009
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1. Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis;International Journal of Molecular Sciences;2023-09-27
2. Hypertension with hidden causes: the cognitive and behavioral profile of an adult female with chronic stress and 16p11.2 microdeletion;Journal of Hypertension;2023-09-12
3. The Phenotypic variability of 16p11.2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples;Journal of Medical Genetics;2023-06-08
4. Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome;Journal of Speech, Language, and Hearing Research;2022-12-12
5. Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion;Genes;2022-12-08
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