Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review

BackgroundCongenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome (OMIM #616266) is an autosomal dominant hereditary disease that can lead to the congenital contracture of the limbs and face, hypotonia, and developmental delay. In addition, it may result...

Full description

Saved in:
Bibliographic Details
Main Authors: Yi Chen (Author), Xiaotong Xia (Author), Yiwen Zhang (Author), Li Gao (Author), Chenyiyi He (Author), Jianguo Cao (Author)
Format: Book
Published: Frontiers Media S.A., 2024-05-01T00:00:00Z.
Subjects:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

Connect to this object online.

3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available