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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
Citation
Palencia-Campos, A and Aoto, PC and Machal, EMF and Rivera-Barahona, A and Soto-Bielicka, P and Bertinetti, D and Baker, B and Vu, L and Piceci-Sparascio, F and Torrente, I and Boudin, E and Peeters, S and Van Hul, W and Huber, C and Bonneau, D and Hildebrand, MS and Coleman, M and Bahlo, M and Bennett, MF and Schneider, AL and Scheffer, IE and Kibaek, M and Kristiansen, BS and Issa, MY and Mehrez, MI and Ismail, S and Tenorio, J and Li, G and Skalhegg, BS and Otaify, GA and Temtamy, S and Aglan, M and Jonch, AE and De Luca, A and Mortier, G and Cormier-Daire, V and Ziegler, A and Wallis, M and Lapunzina, P and Herberg, FW and Taylor, SS and Ruiz-Perez, VL, Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome, American Journal of Human Genetics, 107, (5) pp. 977-988. ISSN 0002-9297 (2020) [Refereed Article]
Copyright Statement
Copyright 2020 American Society of Human Genetics
DOI: doi:10.1016/j.ajhg.2020.09.005
Abstract
Item Details
Item Type: | Refereed Article |
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Keywords: | Ellis-van Creveld syndrome, GLI transcritpion factors, PKA, PRKACA, PRKACB, cAMP signaling, congenital heart defects, hedgehog signaling, mosaicism, postaxial polydactyly |
Research Division: | Biological Sciences |
Research Group: | Genetics |
Research Field: | Genomics |
Objective Division: | Health |
Objective Group: | Clinical health |
Objective Field: | Diagnosis of human diseases and conditions |
UTAS Author: | Wallis, M (Dr Mathew Wallis) |
ID Code: | 145727 |
Year Published: | 2020 |
Web of Science® Times Cited: | 17 |
Deposited By: | UTAS Centre for Rural Health |
Deposited On: | 2021-08-04 |
Last Modified: | 2021-09-28 |
Downloads: | 0 |
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