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

ConclusionOur findings expand both the knowledge of the clinical phenotype and the allelic repertoire of ARCL1C. The comparison of the patient's features with those of the other patients reported up to now offers future perspectives for clinical research in this field.

Source: Molecular Genetics & Genomic Medicine - May 20, 2019 Category: Genetics & Stem Cells Authors: Marco Ritelli, Francisco Cammarata ‐Scalisi, Valeria Cinquina, Marina Colombi Tags: ORIGINAL ARTICLE Source Type: research