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Paper Title
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
PubMed
Paper Journal Title
Am J Hum Genet
Paper Citation Count
32
Paper Publication Year
2021
Bio Mention
BMP, BMP receptor complexes, BMP type I receptors, BMP2, BMP4, BMPs, SCUBE family, SCUBE3, Scube3, Scube3-/-, Signal peptide-CUB-EGF domain-containing protein 3, bone morphogenetic protein, craniofacial and dental defects, dental anomalies, disease, human, mice, recessive developmental disorder, syndromic disorder
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Author Name
Affiliation
Alistair T Pagnamenta
NIHR Oxford Biomedical Research Centre, University of Oxford
Maria Cristina Digilio
IRCCS
Melita Irving
Guy's and St Thomas' NHS Foundation Trust
Jenny C Taylor
NIHR Oxford Biomedical Research Centre, University of Oxford
Bruno Dallapiccola
IRCCS
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Marco Tartaglia
IRCCS
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