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Cutis Laxa

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Cutis Laxa" returned 12 free, full-text review articles. First few results:
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.
Last Updated: Jul 15, 2020

Cutis laxa (CL) is a group of rare connective tissue disorders mainly characterized by wrinkled, redundant, inelastic, and sagging skin. Besides skin anomalies, in most CL forms multiple organs are involved, leading to severe multisystem disorders involving skeletal, cardiovascular, ...

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Last Updated: Apr 20, 2020

The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Cutis Laxa" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Cutis Laxa" returned 87 free, full-text research articles. First few results:
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
Last Updated: May 08, 2020

Individuals affected with autosomal recessive cutis laxa type 2B and 3 usually show translucent skin with visible veins and abnormal elastic fibers, intrauterine and/or postnatal growth restriction and a typical triangular facial gestalt. Here we describe three unrelated individuals ...

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87 Free Research Articles 303 Research Articles