Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review
Crossref DOI link: https://doi.org/10.1186/s12883-016-0602-7
Published Online: 2016-05-21
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Kettwig, Matthias
Elpeleg, Orly
Wegener, Eike
Dreha-Kulaczewski, Steffi
Henneke, Marco
Gärtner, Jutta
Huppke, Peter