article_metadata: Yi Chen Xiaotong Xia Yiwen Zhang Li Gao Chenyiyi He Jianguo Cao
article_metadata: 10.3389/fped.2024.1370790
article_metadata: Front Pediatr
article_metadata: 2024 May 30:12:1370790.
article_metadata: clifahdd syndrome nalcn gene developmental delay genetic testing hypotonia missense variant
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38873579/
article_metadata: Case Reports
article_metadata: PMC11169720
article_metadata: 38873579
article_metadata: Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review
article_metadata: 2024