Skraban-Deardorff Syndrome in an Indian Child - A Very Rare Pathogenic Base Pair Deletion in WDR26 Gene

Indian J Pediatr. 2024 Mar;91(3):317. doi: 10.1007/s12098-023-04970-6. Epub 2023 Dec 6.

Authors

Pradeep Kumar Gunasekaran¹, Ashna Kumar¹, Kandha Kumar Uk¹, Veena Laxmi¹, Sarbesh Tiwari², Lokesh Saini³

Affiliations

¹ Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, 342005, Rajasthan, India.
² Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, 342005, Rajasthan, India.
³ Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, 342005, Rajasthan, India. [email protected].

PMID: 38052954
DOI: 10.1007/s12098-023-04970-6

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adaptor Proteins, Signal Transducing*
Base Pairing
Child
Chromosome Deletion
Humans
Signal Transduction*

Substances

Adaptor Proteins, Signal Transducing
WDR26 protein, human