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

@inproceedings{Skauli2016NovelPV,
  title={Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype},
  author={Nadia Skauli and Sean Wallace and Samuel C. C. Chiang and Tuva Bar\oy and Asbj\orn Holmgren and Asbj\org Stray-Pedersen and Yenan T Bryceson and Petter Str\omme and Eirik Frengen and Doriana Misceo},
  booktitle={Genes},
  year={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, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological… CONTINUE READING