Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
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Albuainain, Fatimah , Shi, Yuwei , Lor-Zade, Sarah , Hüffmeier, Ulrike , Pauly, Melissa , Reis, André , Faivre, Laurence , Maraval, Julien , Bruel, Ange-Line , Them, Frédéric Tran Mau , Haack, Tobias B. , Grasshoff, Ute , Horber, Veronka , Schot, Rachel , van Slegtenhorst, Marjon , Wilke, Martina and Barakat, Tahsin Stefan
Publisher
England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Contents
Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevelopmental disorder which has more recently been fou...
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Full title
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
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TN_cdi_proquest_journals_2952419890
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2952419890
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-023-01530-6
