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Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

Document Type

Article

Author

Evesson, F.J.; Dziaduch, G.; Bryen, S.J.; Waddell, L.B.; Cooper, S.T.; Menezes, M.P.; Tolun, A.A.; Zaidman, C.; Adès, L.C.; Moore, F.; Devanapalli, B.; Pittman, S.; Weihl, C.C.; Ryan, M.M.; Young, H.

Source

In: Human Molecular Genetics. (Human Molecular Genetics, 12 June 2023, 32(12):2084-2092)

Subject

Language

English

ISSN

14602083
09646906

Online Access

Full Text (Oxford University Press) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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