Late Diagnosis of 18p Syndrome with Movement Disorders by Whole Exome Sequencing Read‐Depth Based Algorithm

Late diagnosis of 18p Syndrome revealed by generalized dystonia, using new genetic techniques (Whole Exome Sequencing Read-Depth Based Algorithm)

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Bibliographic Details
Published in	Movement disorders clinical practice (Hoboken, N.J.) Vol. 10; no. 10; pp. 1557 - 1558
Main Authors	Mouraux, Charlotte, Depierreux, Frédérique
Format	Journal Article
Language	English
Published	United States Wiley Subscription Services, Inc 01.10.2023 Wiley John Wiley & Sons, Inc
Subjects	18p Syndrome Dysmorphia Human health sciences Intellectual disability Laboratory medicine & medical technology Letter: Genotype and Phenotype Letters: Genotype and Phenotype Movement Disorders Médecine de laboratoire & technologie médicale Neurogenetics Neurologie Neurology Neurology (clinical) Sciences de la santé humaine
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ISSN	2330-1619 2330-1619
DOI	10.1002/mdc3.13865

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Summary:	Late diagnosis of 18p Syndrome revealed by generalized dystonia, using new genetic techniques (Whole Exome Sequencing Read-Depth Based Algorithm)
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 scopus-id:2-s2.0-85169081538
ISSN:	2330-1619 2330-1619
DOI:	10.1002/mdc3.13865