# Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/germline-and-mosaic-variants-in-prkaca-and-prkacb-cause-a-multiple-congenital/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Adrián Palencia‐Campos,Phillip C. Aoto,Erik M.F. Machal,Ana Rivera‐Barahona,Patricia Soto‐Bielicka,Daniela Bertinetti,Blaine Baker,Lily Vu,Francesca Piceci‐Sparascio,Isabella Torrente,Eveline Boudin,Silke Peeters,Wim Van Hul,Céline Huber,Dominique Bonneau,Michael S. Hildebrand,Matthew Coleman,Melanie Bahlo,Mark F. Bennett,Amy Schneider,Ingrid E. Scheffer,Maria Kibæk,Britta Schlott Kristiansen,Mahmoud Y. Issa,Mennat Mehrez,Samira Ismail,Jair Tenorio,Gaoyang Li,Bjørn Steen Skålhegg,Ghada A. Otaify,Samia A. Temtamy,Mona Aglan,Aia Elise Jønch,Alessandro De Luca,Geert Mortier,Valérie Cormier‐Daire,Alban Ziegler,Mathew Wallis,Pablo Lapunzina,Friedrich W. Herberg,Susan S. Taylor,Víctor L. Ruiz‐Pérez |
| Citations | 54 |
| DOI | 10.1016/j.ajhg.2020.09.005 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929720303256/pdf |
| OpenAlex ID | https://openalex.org/W3092759671 |
| PMID | 33058759 |
| Type | article |
| Year | 2020 |

## Paper authors

- [Mennat Mehrez](https://scholariq.org/researchers/mennat-mehrez/)

## Paper primary topic

- [Hedgehog Signaling Pathway Studies](https://scholariq.org/topics/hedgehog-signaling-pathway-studies/)

## Paper topics

- [Hedgehog Signaling Pathway Studies](https://scholariq.org/topics/hedgehog-signaling-pathway-studies/)
- [Cancer-related gene regulation](https://scholariq.org/topics/cancer-related-gene-regulation/)
- [Chromatin Remodeling and Cancer](https://scholariq.org/topics/chromatin-remodeling-and-cancer/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.