- may
reveal mutations in C1R or C1S
genes affecting the C1r protein.
Spondylodysplastic EDS (spEDS) is
characterized by
short stature (progressive in childhood)...
- encephalopathy, 48, 75, and 80 Donnai-Barrow
syndrome Ehlers-Danlos syndrome,
spondylodysplastic type, 1 and 2
Familial hyperthyroidism due to
mutations in TSH receptor...
-
proteoglycans decorin and
biglycan with
glycosaminoglycan chains, and
cause a
spondylodysplastic form of Ehlers–Danlos syndrome.
Quoting from
recommendations for IUPAC:...
- parkinsonism-intellectual
disability syndrome Ehlers-Danlos syndrome,
spondylodysplastic type
Epidermolysis bullosa simplex Fragile X
syndrome Giant axonal...
- Ehlers-Danlos syndrome,
dermatosparaxis type Ehlers-Danlos syndrome,
spondylodysplastic type, 1
Emanuel syndrome Epilepsy, X-linked 2, with or
without impaired...
- Ehlers–Danlos syndrome,
musculocontractural type Ehlers–Danlos syndrome,
spondylodysplastic type, 1
Intellectual developmental disorder 59 Saethre–Chotzen syndrome...
- ncbi.nlm.nih.gov.
Retrieved 2023-07-02. "Ehlers-Danlos syndrome,
spondylodysplastic type, 1 (Concept Id: C4552003)". www.ncbi.nlm.nih.gov.
Retrieved 2023-07-02...
-
syndrome – (aka mEDS)
Periodontal Ehlers–Danlos
syndrome – (aka pEDS)
Spondylodysplastic Ehlers–Danlos
syndrome – (aka spEDS)
Vascular Ehlers–Danlos syndrome...
-
patients with
Schneckenbecken dysplasia, but not with
other severe spondylodysplastic dysplasias group diseases".
Journal of
Medical Genetics. 46 (8): 562–568...
-
galactosyltransferase I
enzyme with
reduced or
absent activity are ****ociated with
Spondylodysplastic,
formerly progeroid type Ehlers-Danlos syndrome. The
reduced activity...
