- and XI
collagenopathies result in
similar clinical features.[citation needed]
Genetic changes are
related to the
following types of
collagenopathy, types...
- hypochondrogenesis.
Spondyloepiphyseal dysplasia congenita is a
subtype of
collagenopathy,
types II and XI.
People with
spondyloepiphyseal dysplasia are short-statured...
-
known as tropocollagen.
Defects in this step
produce one of the many
collagenopathies known as Ehlers–Danlos syndrome. This step is
absent when synthesizing...
-
connective tissue,
specifically collagen.
Stickler syndrome is a
subtype of
collagenopathy,
types II and XI.
Stickler syndrome is
characterized by distinctive...
-
Spondyloepimetaphyseal dysplasia, (Strudwick type)
Kniest dysplasia (Type II
collagenopathy) COL3: Ehlers–Danlos syndrome (types 3 & 4) Sack–Barabas
syndrome COL4:...
-
syndrome X RPS6KA3 1:40,000-50,000
Cohen syndrome COH1 1:7,800,000
Collagenopathy,
types II and XI COL11A1, COL11A2, COL2A1
Congenital insensitivity to...
- in life.
Early diagnosis can be challenging. Furthermore, type II
collagenopathies have
significant phenotypic overlap with
conditions such as MPS. Guidelines...
-
discover streptococcal infection as the
cause for
rheumatic fever.
Collagenopathy,
types II and XI
Connective tissue disease "NCI
Dictionary of Cancer...
- 6p21.3),
which codes for the α2
strand of
collagen type XI. It is a
collagenopathy,
types II and XI disorder. The
condition was
first characterized in...
-
palmitoyltransferase II
deficiency Charcot–Marie–Tooth disease,
types 1 and 2
collagenopathy,
types II and XI
congenital hypothyroidism Ehlers-Danlos
syndrome Factor...
