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

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