ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
About this item
Full title
Author / Creator
Thomas, Ajay X. , Link, Nichole , Robak, Laurie A. , Demmler‐Harrison, Gail , Pao, Emily C. , Squire, Audrey E. , Michels, Savannah , Cohen, Julie S. , Comi, Anne , Prontera, Paolo , Verrotti di Pianella, Alberto , Di Cara, Giuseppe , Garavelli, Livia , Caraffi, Stefano Giuseppe , Fusco, Carlo , Zuntini, Roberta , Parks, Kendall C. , Sherr, Elliott H. , Hashem, Mais O. , Maddirevula, Sateesh , Alkuraya, Fowzan S. , Contractar, Isphana A. F. , Neil, Jennifer E. , Walsh, Christopher A. , Bellen, Hugo J. , Chao, Hsiao‐Tuan , Clark, Robin D. and Mirzaa, Ghayda M.
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Objective
This study delineates the clinical and molecular spectrum of ANKLE2‐related microcephaly (MIC), as well as highlights shared pathological mechanisms between ANKLE2 and the Zika virus.
Methods
We identified 12 individuals with MIC and variants in ANKLE2 with a broad range of features. Probands underwent thorough phenotypic evaluat...
Alternative Titles
Full title
ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
Authors, Artists and Contributors
Author / Creator
Link, Nichole
Robak, Laurie A.
Demmler‐Harrison, Gail
Pao, Emily C.
Squire, Audrey E.
Michels, Savannah
Cohen, Julie S.
Comi, Anne
Prontera, Paolo
Verrotti di Pianella, Alberto
Di Cara, Giuseppe
Garavelli, Livia
Caraffi, Stefano Giuseppe
Fusco, Carlo
Zuntini, Roberta
Parks, Kendall C.
Sherr, Elliott H.
Hashem, Mais O.
Maddirevula, Sateesh
Alkuraya, Fowzan S.
Contractar, Isphana A. F.
Neil, Jennifer E.
Walsh, Christopher A.
Bellen, Hugo J.
Chao, Hsiao‐Tuan
Clark, Robin D.
Mirzaa, Ghayda M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_bf3759a0566147bbb6315854302293ea
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bf3759a0566147bbb6315854302293ea
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.51629
