Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.

Yap, Patrick; Riley, Lisa G; Kakadia, Purvi M; Bohlander, Stefan K; Curran, Ben; Rahimi, Meer Jacob; Alburaiky, Salam; Hayes, Ian; Oppermann, Henry; Print, Cristin; Cooper, Sandra T; Le Quesne Stabej, Polona

Yap, Patrick; Riley, Lisa G; Kakadia, Purvi M; Bohlander, Stefan K; Curran, Ben; Rahimi, Meer Jacob; Alburaiky, Salam; Hayes, Ian; Oppermann, Henry; Print, Cristin; Cooper, Sandra T; Le Quesne Stabej, Polona.

Affiliation

Yap P; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand. patricky@adhb.govt.nz.
Riley LG; Genetic Health Service New Zealand - Northern hub, Auckland, New Zealand. patricky@adhb.govt.nz.
Kakadia PM; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, NSW, 2145, Australia.
Bohlander SK; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, 2006, Australia.
Curran B; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Rahimi MJ; Leukaemia and Blood Cancer Research Unit, Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Alburaiky S; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Hayes I; Leukaemia and Blood Cancer Research Unit, Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Oppermann H; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Print C; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, 04103, Germany.
Cooper ST; Genetic Health Service New Zealand - Northern hub, Auckland, New Zealand.
Le Quesne Stabej P; Genetic Health Service New Zealand - Northern hub, Auckland, New Zealand.

Eur J Hum Genet ; 32(1): 125-129, 2024 Jan.

Article de En | MEDLINE | ID: mdl-37926713

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Calcium / Hypoparathyroïdie Limites: Humans Langue: En Journal: Eur J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2024 Type de document: Article Pays d'affiliation: Nouvelle-Zélande Pays de publication: Royaume-Uni

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