A novel in-frame deletion flanking exon 54 of the FBN1 gene in a Japanese girl with Marfan syndrome
Pediatr Int
.
2025 Jan-Dec;67(1):e15857.
doi: 10.1111/ped.15857.
Authors
Toshihiko Mori
1
,
Shigeto Fuse
2
,
Kazuna Hirai
3
,
Maki Katai
3
,
Hiroko Morisaki
4
Affiliations
1
Department of Pediatrics, NTT Medical Center Sapporo, Sapporo, Hokkaido, Japan.
2
Department of Laboratory, NTT Medical Center Sapporo, Sapporo, Hokkaido, Japan.
3
Department of Ophthalmology, NTT Medical Center Sapporo, Sapporo, Hokkaido, Japan.
4
Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.
PMID:
39812108
DOI:
10.1111/ped.15857
No abstract available
Keywords:
FBN1; Marfan syndrome; RNA analysis; in‐frame deletion.