| Title: |
Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability |
| Authors: |
Smith, Claire E L; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L; Poulter, James A; Wortmann, Saskia B; Feichtinger, Rene G; Mayr, Johannes A; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C; Watson, Christopher M; Mansour, Sahar; Inglehearn, Chris F; Mighell, Alan J; Bloch-Zupan, Agnès |
| Contributors: |
St James's University Hospital; Leeds Teaching Hospitals NHS Trust; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC); Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS); University of Manchester Manchester; University of Leeds; The UK Inherited Retinal Disease Consortium, Genomics England; ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010); ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010) |
| Source: |
ISSN: 0022-2593. |
| Publisher Information: |
CCSD; BMJ Publishing Group |
| Publication Year: |
2024 |
| Collection: |
Inserm: HAL (Institut national de la santé et de la recherche médicale) |
| Subject Terms: |
[SDV.BBM]Life Sciences [q-bio]/Biochemistry; Molecular Biology |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1136/jmg-2023-109728 |
| Availability: |
https://hal.science/hal-04699527; https://hal.science/hal-04699527v1/document; https://hal.science/hal-04699527v1/file/islandora_171807.pdf; https://doi.org/10.1136/jmg-2023-109728 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ ; info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.63F44D88 |
| Database: |
BASE |