Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
Clin Dysmorphol
.
2023 Apr 1;32(2):70-73.
doi: 10.1097/MCD.0000000000000444.
Epub 2022 Dec 27.
Authors
Raquel Rodrigues
1
,
Mariana Soeiro E Sá
,
Ana Sousa
,
Ana Berta Sousa
Affiliation
1
Departamento de Pediatria, Serviço de Genética Médica, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisboa, Portugal.
PMID:
36728774
DOI:
10.1097/MCD.0000000000000444
No abstract available
MeSH terms
Chromosome Deletion
Haploinsufficiency*
Humans
Intellectual Disability* / genetics
Repressor Proteins / genetics
Substances
CNOT2 protein, human
Repressor Proteins