Items tagged “osteopoikilosis”
10 results found
Case
Osteopoikilosis
Published
21 Jan 2011
71% complete
X-ray
MRI
Nuclear medicine
Case
Osteopoikilosis (MRI)
Published
15 Jan 2013
92% complete
MRI
Case
Osteopoikilosis
Published
23 Mar 2014
75% complete
X-ray
Case
Osteopoikilosis
Published
22 Apr 2016
89% complete
X-ray
CT
Case
Osteopoikilosis
Published
09 Jul 2020
91% complete
X-ray
Case
Osteopoikilosis
Published
12 Mar 2020
77% complete
MRI
Case
Osteopoikilosis
Published
09 Apr 2020
89% complete
X-ray
CT
Case
Osteopoikilosis
Published
12 Apr 2021
100% complete
CT
Case
Osteopoikilosis
Published
04 Nov 2021
94% complete
X-ray
Article
12q14 microdeletion syndrome
12q14 microdeletion syndrome or osteopoikilosis-short stature-intellectual disability syndrome is caused by heterozygous deletion at the region of 12q14. The microdeletion affects the LEMD3 gene which has already been implicated in osteopoikilosis.
Epidemiology
Prevalence is <1 in 1 million li...