Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype
Clin Dysmorphol
.
2023 Jul 1;32(3):116-123.
doi: 10.1097/MCD.0000000000000456.
Epub 2023 May 1.
Authors
Mohamed Wafik
1
,
Heidi Kuoppamaa
2
,
Priyal Hirani
2
,
John Hignett
2
,
Suzanne Lillis
2
,
Karine Lascelles
3
,
Shweta Sardesai
4
,
Kumudini Gomez
5
,
Muriel Holder-Espinasse
1
Affiliations
1
Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust.
2
Viapath LLP, Guy's Hospital, 5th Floor Tower Wing.
3
Evelina London Children's Hospital.
4
Community Paediatrics Medical Service, Oxleas NHS Foundation Trust.
5
Department of Paediatrics, University Hospital Lewisham, London, UK.
PMID:
37195306
DOI:
10.1097/MCD.0000000000000456
No abstract available
MeSH terms
Humans
Intellectual Disability* / diagnosis
Intellectual Disability* / genetics
Neurodevelopmental Disorders* / diagnosis
Neurodevelopmental Disorders* / genetics
Phenotype