About Us   |   Contact Us
An International Publisher for Academic and Scientific Journals
Author Login 
 Author Login
Submit Manuscript
Join Membership
Join As Reviewer
Join As Editor
Pay Publication Fee
Subscribe Hard Copy
Scholars Journal of Medical Case Reports | Volume-12 | Issue-05
A Novel Variant of CACNA1C Subtype Related Disorders: A Neonate with Dysmorphism and Distal Skeletal Defects
Yunis A. Mohamed, Maha Mubarak, Jaber Alfaifi, Anees Ghassan, Hani Hassan, Naziha Elreih, Osama A. Ibrahim
Published: May 3, 2024 | 73 54
DOI: 10.36347/sjmcr.2024.v12i05.005
Pages: 596-598
Downloads
Abstract
The mutation of CACNA1C gene on chromosome 12p13, has known to be associated with disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS). We report neonate with a novel variant of CACNA1C subtype related disorder with dysmorphisms and distal skeletal dysplasia.