Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum:...
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
About this item
Full title
Author / Creator
Elsayed, Liena Elbaghir Omer , AlHarbi, Norah Ayed , Alqarni, Ashwaq Mohammed , Eltayeb, Huda Hussein Elwasila , Mostafa, Noura Mostafa Mohamed , Abdulrahim, Maha Mohammed , Zaid, Hadeel Ibrahim Bin , Alanzi, Latifah Mansour , Ababtain, Sarah Abdullah , Aldulaijan, Khawlah , Aloyouni, Sheka Yagub , Othman, Moneeb Abdullah Kassem , Alkheilewi, Mohammad Abdullah , Binduraihem, Adel Mohammed , Alrukban, Hadeel Abdollah , Ahmed, Hiba Yousif , AlRadini, Faten Abdullah , Alahdal, Hadil Mohammad , Mushiba, Aziza Mufareh and Alzaher, Omaima Abdulazeem
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Chromosome 16p11.2 deletions and duplications were found to be the second most common copy number variation (CNV) reported in cases with clinical presentation suggestive of chromosomal syndromes. Chromosome 16p11.2 deletion syndrome shows remarkable phenotypic heterogeneity with a wide variability of presentation extending from normal development a...
Alternative Titles
Full title
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Authors, Artists and Contributors
Author / Creator
AlHarbi, Norah Ayed
Alqarni, Ashwaq Mohammed
Eltayeb, Huda Hussein Elwasila
Mostafa, Noura Mostafa Mohamed
Abdulrahim, Maha Mohammed
Zaid, Hadeel Ibrahim Bin
Alanzi, Latifah Mansour
Ababtain, Sarah Abdullah
Aldulaijan, Khawlah
Aloyouni, Sheka Yagub
Othman, Moneeb Abdullah Kassem
Alkheilewi, Mohammad Abdullah
Binduraihem, Adel Mohammed
Alrukban, Hadeel Abdollah
Ahmed, Hiba Yousif
AlRadini, Faten Abdullah
Alahdal, Hadil Mohammad
Mushiba, Aziza Mufareh
Alzaher, Omaima Abdulazeem
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c35507dced82439484a71711a4834fd0
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c35507dced82439484a71711a4834fd0
Other Identifiers
ISSN
1479-7364,1473-9542
E-ISSN
1479-7364
DOI
10.1186/s40246-024-00662-0
