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

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...

Full description

Bibliographic Details
Main Authors: İlker Karacan, Reyhan Diz Küçükkaya, Fatma Nur Karakuş, Seyhun Solakoğlu, Aslıhan Tolun, Veysel Sabri Hancer, Eda Tahir Turanlı
Format: Article
Language:English
Published: Galenos Publishing House 2019-02-01
Series:Turkish Journal of Hematology
Subjects:
atp6v0a2
cutis laxa
wound healing
bleeding diathesis
whole exome sequencing
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-26780

Internet

https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-26780

Similar Items