A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental dela...
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
About this item
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Author / Creator
Shao, Diane D. , Straussberg, Rachel , Ahmed, Hind , Khan, Amjad , Tian, Songhai , Hill, R. Sean , Smith, Richard S. , Majmundar, Amar J. , Ameziane, Najim , Neil, Jennifer E. , Yang, Edward , Al Tenaiji, Amal , Jamuar, Saumya S. , Schlaeger, Thorsten M. , Al-Saffar, Muna , Hovel, Iris , Al-Shamsi, Aisha , Basel-Salmon, Lina , Amir, Achiya Z. , Rento, Lariza M. , Lim, Jiin Ying , Ganesan, Indra , Shril, Shirlee , Evrony, Gilad , Barkovich, A. James , Bauer, Peter , Hildebrandt, Friedhelm , Dong, Min , Borck, Guntram , Beetz, Christian , Al-Gazali, Lihadh , Eyaid, Wafaa and Walsh, Christopher A.
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
The endoplasmic reticulum membrane complex (EMC) is a highly conserved, multifunctional 10-protein complex related to membrane protein biology. In seven families, we identified 13 individuals with highly overlapping phenotypes who harbor a single identical homozygous frameshift variant in EMC10.
Using exome, genome, and Sanger sequencing, a recu...
Alternative Titles
Full title
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
Authors, Artists and Contributors
Author / Creator
Straussberg, Rachel
Ahmed, Hind
Khan, Amjad
Tian, Songhai
Hill, R. Sean
Smith, Richard S.
Majmundar, Amar J.
Ameziane, Najim
Neil, Jennifer E.
Yang, Edward
Al Tenaiji, Amal
Jamuar, Saumya S.
Schlaeger, Thorsten M.
Al-Saffar, Muna
Hovel, Iris
Al-Shamsi, Aisha
Basel-Salmon, Lina
Amir, Achiya Z.
Rento, Lariza M.
Lim, Jiin Ying
Ganesan, Indra
Shril, Shirlee
Evrony, Gilad
Barkovich, A. James
Bauer, Peter
Hildebrandt, Friedhelm
Dong, Min
Borck, Guntram
Beetz, Christian
Al-Gazali, Lihadh
Eyaid, Wafaa
Walsh, Christopher A.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8187145
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8187145
Other Identifiers
ISSN
1098-3600,1530-0366
E-ISSN
1530-0366
DOI
10.1038/s41436-021-01097-x
