טוען...
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...
שמור ב:
| הוצא לאור ב: | Sci Rep |
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| Main Authors: | , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group UK
2021
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8213761/ https://ncbi.nlm.nih.gov/pubmed/34145321 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-92026-0 |
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