Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism
| Title: | Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism |
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| Authors: | Yap, PatrickAff1, Aff2, IDs41431023014849_cor1; Riley, Lisa G.Aff3, Aff4; Kakadia, Purvi M.Aff1, Aff5; Bohlander, Stefan K.Aff1, Aff5; Curran, BenAff1; Rahimi, Meer JacobAff6; Alburaiky, SalamAff2; Hayes, IanAff2; Oppermann, HenryAff6; Print, CristinAff1; Cooper, Sandra T.Aff4, Aff7, Aff8; Le Quesne Stabej, PolonaAff1 |
| Source: | European Journal of Human Genetics. 32(1):125-129 |
| Database: | Springer Nature Journals |