Disease: Cutis laxa with joint laxity and retarded development
- A Novel <em>ATP6V0A2</em> Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing
- A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa
- Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients
- Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome
- Congenital cutis laxa with retardation of growth and development
- Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
- Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
- NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A
- Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A
- Review of clinical and molecular variability in autosomal recessive cutis laxa 2A
- Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families