Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome
About this item
Full title
Author / Creator
Foroutan, Aidin , Haghshenas, Sadegheh , Bhai, Pratibha , Levy, Michael A , Kerkhof, Jennifer , McConkey, Haley , Niceta, Marcello , Ciolfi, Andrea , Pedace, Lucia , Miele, Evelina , Genevieve, David , Heide, Solveig , Alders, Mariëlle , Zampino, Giuseppe , Merla, Giuseppe , Fradin, Mélanie , Bieth, Eric , Bonneau, Dominique , Dieterich, Klaus , Fergelot, Patricia , Schaefer, Elise , Faivre, Laurence , Vitobello, Antonio , Maitz, Silvia , Fischetto, Rita , Gervasini, Cristina , Piccione, Maria , van de Laar, Ingrid , Tartaglia, Marco , Sadikovic, Bekim and Lebre, Anne-Sophie
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Wiedemann-Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the
gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typi...
Alternative Titles
Full title
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome
Authors, Artists and Contributors
Author / Creator
Haghshenas, Sadegheh
Bhai, Pratibha
Levy, Michael A
Kerkhof, Jennifer
McConkey, Haley
Niceta, Marcello
Ciolfi, Andrea
Pedace, Lucia
Miele, Evelina
Genevieve, David
Heide, Solveig
Alders, Mariëlle
Zampino, Giuseppe
Merla, Giuseppe
Fradin, Mélanie
Bieth, Eric
Bonneau, Dominique
Dieterich, Klaus
Fergelot, Patricia
Schaefer, Elise
Faivre, Laurence
Vitobello, Antonio
Maitz, Silvia
Fischetto, Rita
Gervasini, Cristina
Piccione, Maria
van de Laar, Ingrid
Tartaglia, Marco
Sadikovic, Bekim
Lebre, Anne-Sophie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8836705
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8836705
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms23031815
