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Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

Document Type

Article

Author

Faergeman, S.L.; Bojesen, A.B.; Becher, N.; Andreasen, L.; Gregersen, P.A.; Andersen, B.N.; Rasmussen, M.; Erbs, E.; Lildballe, D.L.; Nielsen, J.E.K.; Zilmer, M.; Hammer, T.B.; Andersen, M.Ø.; Brasch-Andersen, C.; Fagerberg, C.R.; Illum, N.O.; Thorup, M.B.

Source

In: European Journal of Medical Genetics. (European Journal of Medical Genetics, September 2021, 64(9))

Subject

Language

English

ISSN

18780849
17697212

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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