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

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

Abstract Background 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, cardiovascul...

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Bibliographic Details
Main Authors: Marco Ritelli, Francisco Cammarata‐Scalisi, Valeria Cinquina, Marina Colombi
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ARCL1C
autosomal recessive cutis laxa type 1C
latent transforming growth factor‐beta binding protein 4
LTBP4
Online Access:https://doi.org/10.1002/mgg3.735

Internet

https://doi.org/10.1002/mgg3.735

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