Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinica...
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
About this item
Full title
Author / Creator
Pehlivan, Davut , Bengtsson, Jesse D , Bajikar, Sameer S , Grochowski, Christopher M , Lun, Ming Yin , Gandhi, Mira , Jolly, Angad , Trostle, Alexander J , Harris, Holly K , Suter, Bernhard , Aras, Sukru , Ramocki, Melissa B , Du, Haowei , Mehaffey, Michele G , Park, KyungHee , Wilkey, Ellen , Karakas, Cemal , Eisfeldt, Jesper J , Pettersson, Maria , Liu, Lynn , Shinawi, Marwan S , Kimonis, Virginia E , Wiszniewski, Wojciech , Mckenzie, Kyle , Roser, Timo , Vianna-Morgante, Angela M , Cornier, Alberto S , Abdelmoity, Ahmed , Hwang, James P , Jhangiani, Shalini N , Muzny, Donna M , Mitani, Tadahiro , Muramatsu, Kazuhiro , Nabatame, Shin , Glaze, Daniel G , Fatih, Jawid M , Gibbs, Richard A , Liu, Zhandong , Lindstrand, Anna , Sedlazeck, Fritz J , Lupski, James R , Zoghbi, Huda Y and Carvalho, Claudia M B
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation ex...
Alternative Titles
Full title
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Authors, Artists and Contributors
Author / Creator
Bengtsson, Jesse D
Bajikar, Sameer S
Grochowski, Christopher M
Lun, Ming Yin
Gandhi, Mira
Jolly, Angad
Trostle, Alexander J
Harris, Holly K
Suter, Bernhard
Aras, Sukru
Ramocki, Melissa B
Du, Haowei
Mehaffey, Michele G
Park, KyungHee
Wilkey, Ellen
Karakas, Cemal
Eisfeldt, Jesper J
Pettersson, Maria
Liu, Lynn
Shinawi, Marwan S
Kimonis, Virginia E
Wiszniewski, Wojciech
Mckenzie, Kyle
Roser, Timo
Vianna-Morgante, Angela M
Cornier, Alberto S
Abdelmoity, Ahmed
Hwang, James P
Jhangiani, Shalini N
Muzny, Donna M
Mitani, Tadahiro
Muramatsu, Kazuhiro
Nabatame, Shin
Glaze, Daniel G
Fatih, Jawid M
Gibbs, Richard A
Liu, Zhandong
Lindstrand, Anna
Sedlazeck, Fritz J
Lupski, James R
Zoghbi, Huda Y
Carvalho, Claudia M B
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_3322a058f6454c1fa87047287255d6fb
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3322a058f6454c1fa87047287255d6fb
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-024-01411-7
