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
2007 1
2015 1
2016 1
2018 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Lethal congenital contracture syndrome 4"
Page 1
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
Agolini E, Cherchi C, Bellacchio E, Martinelli D, Cocciadiferro D, Cutrera R, Chiarini Testa MB, Barone C, Bianca S, Novelli A. Agolini E, et al. Clin Genet. 2020 Apr;97(4):649-654. doi: 10.1111/cge.13691. Epub 2020 Feb 20. Clin Genet. 2020. PMID: 31846058
Arthrogryposis multiplex congenita (AMC) is defined as congenital, non-progressive contractures in more than two joints and in multiple body areas, resulting from reduced fetal mobility. ...ADCY6 inactivation, due to biallelic variants, have been previously associat …
Arthrogryposis multiplex congenita (AMC) is defined as congenital, non-progressive contractures in more than two joints and in …
Structural insights into lethal contractural syndrome type 3 (LCCS3) caused by a missense mutation of PIP5Kgamma.
Zeng X, Uyar A, Sui D, Donyapour N, Wu D, Dickson A, Hu J. Zeng X, et al. Biochem J. 2018 Jul 26;475(14):2257-2269. doi: 10.1042/BCJ20180326. Biochem J. 2018. PMID: 29959184 Free PMC article.
Signaling molecule phosphatidylinositol 4,5-bisphosphate is produced primarily by phosphatidylinositol 4-phosphate 5-kinase (PIP5K). PIP5K is essential for the development of the human neuronal system, which has been exemplified by a recessive genetic disorder, l …
Signaling molecule phosphatidylinositol 4,5-bisphosphate is produced primarily by phosphatidylinositol 4-phosphate 5-kinase (P …
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Narkis G, et al. Am J Hum Genet. 2007 Sep;81(3):589-95. doi: 10.1086/520770. Epub 2007 Jul 24. Am J Hum Genet. 2007. PMID: 17701904 Free PMC article.
Lethal congenital contractural syndrome type 2 (LCCS2) is an autosomal recessive neurogenic form of arthrogryposis that is associated with atrophy of the anterior horn of the spinal cord. We previously mapped LCCS2 to 6.4 Mb on chromosome 12q13 …
Lethal congenital contractural syndrome type 2 (LCCS2) is an autosomal recessive neurogenic form of arthrogrypos …
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN. Ekhilevitch N, et al. Clin Genet. 2016 Jul;90(1):84-9. doi: 10.1111/cge.12707. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26661508
Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous nonprogressive multiple joint contractures appearing at birth. We present a consanguineous Israeli-Druze family with several members presenting with AMC. ...Heterozygous mutations in this gene are a …
Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous nonprogressive multiple joint contractures appearing at bi …
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB. Seo J, et al. J Hum Genet. 2015 Apr;60(4):213-5. doi: 10.1038/jhg.2015.2. Epub 2015 Jan 22. J Hum Genet. 2015. PMID: 25608830
There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, lethal type (OMIM#253290). ...Here, we present three patients from two unrelated families showing multiple joint …
There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and t …