The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2

Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

(2009) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel missense mutation inSCYL1BP1produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations

(2009) Mohammed Al-Dosari et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autosomal recessive cutis laxa syndrome revisited

(2009) Éva Morava et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

(2008) Anna Rajab et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

(2008) William G. Newman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

(2008) Hans Christian Hennies et al.   NATURE GENETICS

Gerodermia Osteodysplastica/Wrinkly Skin Syndrome: Report of Three Patients and Brief Review of the Literature

(2008) Arti Nanda et al.   PEDIATRIC DERMATOLOGY