Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3
Am J Med Genet A
.
2022 Dec;188(12):3567-3568.
doi: 10.1002/ajmg.a.62977.
Epub 2022 Sep 30.
Authors
Paulo Ribeiro Nóbrega
1
2
,
Matheus Augusto Araújo Castro
2
3
,
Anderson Rodrigues Brandão de Paiva
3
4
,
Fernando Kok
2
3
Affiliations
1
Division of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.
2
Neurogenetics Unit, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, Brazil.
3
Mendelics Genomic Analysis, São Paulo, Brazil.
4
Neurology Department, Hospital São Rafael-Rede D'Or São Luiz, Salvador, Brazil.
PMID:
36177944
DOI:
10.1002/ajmg.a.62977
No abstract available
Publication types
Letter
MeSH terms
Abnormalities, Multiple* / diagnosis
Abnormalities, Multiple* / genetics
Humans
Intellectual Disability*
Muscle Hypotonia
Seizures
Supplementary concepts
Light Fixation Seizure Syndrome