A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

DCBLD2 encodes discodin, CUB and LCCL domain-containing protein 2, a type-I transmembrane receptor that is involved in intracellular receptor signalling pathways and the regulation of cell growth. In this report, we describe a 5-year-old female who presented severe clinical features, including restr...

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Detalles Bibliográficos
Autores principales: Alhamoudi, Kheloud M., Barhoumi, Tlili, Al-Eidi, Hamad, Asiri, Abdulaziz, Nashabat, Marwan, Alaamery, Manal, Alharbi, Masheal, Alhaidan, Yazeid, Tabarki, Brahim, Umair, Muhammad, Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213761/
https://www.ncbi.nlm.nih.gov/pubmed/34145321
http://dx.doi.org/10.1038/s41598-021-92026-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213761/
https://www.ncbi.nlm.nih.gov/pubmed/34145321
http://dx.doi.org/10.1038/s41598-021-92026-0

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