Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination. Issue 4 (19th April 2022)

Record Type:
Journal Article
Title:
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination. Issue 4 (19th April 2022)
Main Title:
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination
Authors:
do Rosario, Michelle C.
Kaur, Parneet
Girisha, Katta Mohan
Bielas, Stephanie
Shukla, Anju
Abstract:
Is Part Of:
Clinical dysmorphology. Volume 31:Issue 4(2022)
Journal:
Clinical dysmorphology
Issue:
Volume 31:Issue 4(2022)
Issue Display:
Volume 31, Issue 4 (2022)
Year:
2022
Volume:
31
Issue:
4
Issue Sort Value:
2022-0031-0004-0000
Page Start:
196
Page End:
200
Publication Date:
2022-04-19
Subjects:
Abnormalities, Human -- Periodicals
Genetic disorders -- Periodicals
Abnormalities -- periodicals
Abnormalities, Human
Periodicals
616.042
Journal URLs:
http://gateway.ovid.com/ovidweb.cgi?T=JS&MODE=ovid&NEWS=n&PAGE=toc&D=ovft&AN=00019605-000000000-00000 ↗
http://journals.lww.com/clindysmorphol/pages/default.aspx ↗
http://journals.lww.com/pages/default.aspx ↗
http://firstsearch.oclc.org ↗
DOI:
10.1097/MCD.0000000000000423 ↗
Languages:
English
ISSNs:
0962-8827
Deposit Type:
Legaldeposit
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:
British Library DSC - 3286.273700
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Ingest File:
23333.xml