De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

(2011) Dorus Kouwenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family

(2011) Dar-Shong Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS)

(2011) David L. Skidmore et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

(2011) Rita Kretz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Metabolic cutis laxa syndromes

(2011) Miski Mohamed et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2010) Yeşerin Yıldırım et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

De Barsy syndrome: a review of the phenotype

(2009) Emma C. Kivuva et al.   CLINICAL DYSMORPHOLOGY

De Barsy syndrome and ATP6V0A2-CDG

(2009) Elisa Leao-Teles et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

(2008) Louise S Bicknell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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