Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2016 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Disproportionate short-limb short stature"
Page 1
Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.
Yu WJ, Zhang Z, He JW, Fu WZ, Wang C, Zhang ZL. Yu WJ, et al. Mol Med Rep. 2016 Sep;14(3):2180-6. doi: 10.3892/mmr.2016.5486. Epub 2016 Jul 8. Mol Med Rep. 2016. PMID: 27432013
Pseudoachondroplasia (PSACH; MIM no. 177170) is an autosomal dominant osteochondrodysplasia characterized by short-limb short stature, brachydactyly and early-onset osteoarthropathy. Typically, at approximately two years of age, the rate of growth fall …
Pseudoachondroplasia (PSACH; MIM no. 177170) is an autosomal dominant osteochondrodysplasia characterized by short-limb sho …
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Smithson SF, Grier D, Hall CM. Smithson SF, et al. Clin Dysmorphol. 2009 Jan;18(1):31-35. doi: 10.1097/MCD.0b013e3283189762. Clin Dysmorphol. 2009. PMID: 19050402
We describe the clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (OMIM 271665) in a 7-year-old boy from Pakistan. The key clinical features of this condition include disproportionate short …
We describe the clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification ty …