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

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

Abstract 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, includ...

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Autores principales: Kheloud M. Alhamoudi, Tlili Barhoumi, Hamad Al-Eidi, Abdulaziz Asiri, Marwan Nashabat, Manal Alaamery, Masheal Alharbi, Yazeid Alhaidan, Brahim Tabarki, Muhammad Umair, Majid Alfadhel
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
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Acceso en línea:https://doaj.org/article/218446d81b0a4deda8e7c1a821aa05c8
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