Autosomal recessive cutis laxa type 2

Common Name(s)

Autosomal recessive cutis laxa type 2

The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by {4:Morava et al., 2009}). No specific clinical features distinguish ARCL2A ({219200}), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported ({4:Morava et al., 2009}; {2:Guernsey et al., 2009}). For a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autosomal recessive cutis laxa type 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Autosomal recessive cutis laxa type 2" returned 1 free, full-text research articles on human participants. First 3 results:

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.
 

Author(s): D Z Scherrer, M B Baptista, A H B Matos, C V Maurer-Morelli, C E Steiner

Journal: Eur J Med Genet. 2013 Jun;56(6):336-9.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Autosomal recessive cutis laxa type 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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