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

Soren L. Faergeman^*, Anders B. Bojesen, Maria Rasmussen, Naja Becher, Lotte Andreasen, Brian N. Andersen, Emilie Erbs, Dorte L. Lildballe, Jens Erik K. Nielsen, Monica Zilmer, Trine Bjørg Hammer, Mikkel Andersen, Charlotte Brasch-Andersen, Christina R. Fagerberg, Niels O. Illum, Mette B. Thorup, Pernille A. Gregersen

^*Corresponding author for this work

IRS - Lillebælt Hospital, Research Unit of Human Genetics (Vejle)
IRS - Sygehus Lillebælt, Forskningsenhed for Rygkirurgi (Kolding)
KI, OUH, Research unit of Clinical Genetics (Odense)
KI, OUH, Research unit of Paediatrics (Odense)

Aarhus University Hospital
Sygehus Lillebælt
Zealand University Hospital, Roskilde
Epilepsihospitalet Filadelfia
Rigshospitalet

Research output: Contribution to journal › Journal article › Research › peer-review

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

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Biochemistry, Genetics and Molecular Biology