Case Report: Deciphering a de novo complex chromosomal rearrangement causing premature ovarian insufficiency, short stature, and mild intellectual disability using long-read sequencing.
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| Title: | Case Report: Deciphering a de novo complex chromosomal rearrangement causing premature ovarian insufficiency, short stature, and mild intellectual disability using long-read sequencing. |
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| Authors: | Cheng Q; Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.; Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China., Peng Q; Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.; Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China., Lv F; Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.; Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China., Zeng X; Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.; Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China., Chen X; Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China., Li S; Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.; Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China., Lu X; Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.; Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China. |
| Source: | Frontiers in genetics [Front Genet] 2026 Jun 09; Vol. 17, pp. 1811784. Date of Electronic Publication: 2026 Jun 09 (Print Publication: 2026). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2026.1811784 |
