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Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome

Document Type

Journal

Author

Arnaud, Pauline; Mougin, Zakaria; Baujat, Genevieve; Drouin-Garraud, Valerie; El Chehadeh, Salima; Gouya, Laurent; Odent, Sylvie; Jondeau, Guillaume; Boileau, Catherine; Hanna, Nadine; Le Goff, Carine

Source

JOURNAL OF MEDICAL GENETICS; MAR 8 2024, 8p.

Subject

Language

English

ISSN

14686244

Online Access

Full Text (BMJ Journals) Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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