A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing

OBJECTIVE: Autosomal recessive cutis laxa type IIA (ARCL2A) is a rare congenital disorder characterized by loose and elastic skin, growth and developmental delay, and skeletal anomalies. It is caused by biallelic mutations in ATP6V0A2. Those mutations lead to increased pH in secretory vesicles and t...

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Detalles Bibliográficos
Autores principales: Karacan, İlker, Diz Küçükkaya, Reyhan, Karakuş, Fatma Nur, Solakoğlu, Seyhun, Tolun, Aslıhan, Hançer, Veysel Sabri, Turanlı, Eda Tahir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373508/
https://www.ncbi.nlm.nih.gov/pubmed/30474613
http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0325

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