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Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene.

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Title: Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene.
Authors: Yagi H; Department of Cardiovascular Medicine The University of Tokyo Hospital Tokyo Japan.; Marfan Syndrome Center The University of Tokyo Hospital Tokyo Japan., Takiguchi H; Department of Cardiovascular Medicine The University of Tokyo Hospital Tokyo Japan., Takeda N; Department of Cardiovascular Medicine The University of Tokyo Hospital Tokyo Japan.; Marfan Syndrome Center The University of Tokyo Hospital Tokyo Japan., Inuzuka R; Marfan Syndrome Center The University of Tokyo Hospital Tokyo Japan.; Department of Pediatrics The University of Tokyo Hospital Tokyo Japan., Taniguchi Y; Marfan Syndrome Center The University of Tokyo Hospital Tokyo Japan.; Department of Orthopedic Surgery The University of Tokyo Hospital Tokyo Japan., Porto KJ; Department of Neurology The University of Tokyo Hospital Tokyo Japan., Ishiura H; Department of Neurology The University of Tokyo Hospital Tokyo Japan., Mitsui J; Department of Neurology The University of Tokyo Hospital Tokyo Japan., Morita H; Department of Cardiovascular Medicine The University of Tokyo Hospital Tokyo Japan., Komuro I; Department of Cardiovascular Medicine The University of Tokyo Hospital Tokyo Japan.
Source: Clinical case reports [Clin Case Rep] 2022 Feb 09; Vol. 10 (2), pp. e05335. Date of Electronic Publication: 2022 Feb 09 (Print Publication: 2022).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:2050-0904
DOI:10.1002/ccr3.5335