Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency
Abstract Background The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Book |
| Published: |
BMC,
2021-06-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|