Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

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Skauli, Nadia; Wallace, Sean; Chiang, Samuel C. C.; Barøy, Tuva; Holmgren, Asbjørn; Stray-Pedersen, Asbjørg; Bryceson, Yenan T.; Strømme, Petter; Frengen, Eirik; Misceo, Doriana;
(2016)

Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, ce... View more
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