Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1.

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Title: Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1.
Authors: Zhou C; Department of Pediatrics, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, China., Chen Z; Department of Pediatrics, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, China., Chen Q; Department of Ultrasound, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, China., Feng X; Department of Pediatrics, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, China.
Source: Frontiers in neurology [Front Neurol] 2024 May 30; Vol. 15, pp. 1289625. Date of Electronic Publication: 2024 May 30 (Print Publication: 2024).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1664-2295
DOI:10.3389/fneur.2024.1289625