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Article

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.

Neurogenetics - 1 Aug 2014

Nakashima Mitsuko, Kashii Hirofumi, Murakami Yoshiko, Kato Mitsuhiro, Tsurusaki Yoshinori, Miyake Noriko, Kubota Masaya, Kinoshita Taroh, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

Recessive mutations in genes of the glycosylphosphatidylinositol (GPI)-anchor synthesis pathway have been demonstrated as causative of GPI deficiency disorders associated with intellectual disability, seizures, and diverse congenital anomalies. We performed whole exome sequencing in a patient with progressive encephalopathies and multiple dysmorphism with hypophosphatasia and identified novel compound...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24906948
DOI: 10.1007/s10048-014-0408-y

Genes

GPI
PIGT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.PMID 24906948Read ↗

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