First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C

Cutis laxa (CL) is a rare connective tissue disorder characterized by wrinkled, abundant and sagging skin, sometimes associated with systemic impairment. Biallelic alterations in latent transforming growth factor beta‐binding protein 4 gene (LTBP4) cause autosomal recessive type 1C cutis laxa (ARCL1...

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Detalles Bibliográficos
Autores principales: Ravel, Jean‐Marie, Comel, Margot, Wandzel, Marion, Bronner, Myriam, Tatopoulos, Aurélie, Renaud, Mathilde, Lambert, Laëtitia, Bursztejn, Anne‐Claire, Bonnet, Céline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9805176/
https://www.ncbi.nlm.nih.gov/pubmed/35972031
http://dx.doi.org/10.1002/ajmg.a.62954

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9805176/
https://www.ncbi.nlm.nih.gov/pubmed/35972031
http://dx.doi.org/10.1002/ajmg.a.62954

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