@article{267ef9d01224486b833f24a9a91d533f,
title = "Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination",
author = "{Do Rosario}, {Michelle C.} and Parneet Kaur and Girisha, {Katta Mohan} and Stephanie Bielas and Anju Shukla",
note = "Funding Information: This work was funded by National Institutes of Health, USA under the project titled {\textquoteleft}Genetic Diagnosis of Neurodevelopmental Disorders in India{\textquoteright} Grant ID - 1R01HD093570-01A1. ",
year = "2022",
month = oct,
day = "1",
doi = "10.1097/MCD.0000000000000423",
language = "English",
volume = "31",
pages = "196--200",
journal = "Clinical Dysmorphology",
issn = "0962-8827",
publisher = "Lippincott Williams and Wilkins",
number = "4",
}