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
- DOI
- 10.1002/mgg3.735
- Published
- 07
- Container
- Molecular Genetics & Genomic Medicine
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1002/mgg3.735,
title = {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},
author = {Marco Ritelli and Francisco Cammarata‐Scalisi and Valeria Cinquina and Marina Colombi},
year = {2019},
journal = {Molecular Genetics \& Genomic Medicine},
doi = {10.1002/mgg3.735},
url = {https://doi.org/10.1002/mgg3.735}
}RIS
TY - JOUR TI - 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 AU - Marco Ritelli AU - Francisco Cammarata‐Scalisi AU - Valeria Cinquina AU - Marina Colombi PY - 2019 JO - Molecular Genetics & Genomic Medicine DO - 10.1002/mgg3.735 UR - https://doi.org/10.1002/mgg3.735 ER -
APA
Ritelli, M., Cammarata‐Scalisi, F., Cinquina, V., & Colombi, M. (2019). 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. Molecular Genetics & Genomic Medicine. https://doi.org/10.1002/mgg3.735
Source records
- doaj · retrieved 2026-11-10T15:07:25.743Z