Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

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

(2012) Stefania Zampatti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

(2012) Björn Fischer et al.   HUMAN GENETICS

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

(2012) Bert Callewaert et al.   HUMAN MUTATION

Cutis laxa: A review

(2012) David R. Berk et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

(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

Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin

(2011) T. Gardeitchik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cutis laxa and fatal pulmonary hypertension

(2011) Nicola Brunetti-Pierri et al.   CLINICAL DYSMORPHOLOGY

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

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

(2011) Diego Martinelli et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Metabolic cutis laxa syndromes

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

ATP7A-related copper transport diseases—emerging concepts and future trends

(2011) Stephen G. Kaler   Nature Reviews Neurology

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

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

(2010) Beate Albrecht et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

(2010) Tjitske Kleefstra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

(2010) Marjolijn Renard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)

(2010) Delfien Syx et al.   HUMAN GENETICS

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

(2009) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development

(2009) Zsolt Urban et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Barsy syndrome: a review of the phenotype

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

Autosomal recessive cutis laxa syndrome revisited

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

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

(2009) V. Hucthagowder et al.   HUMAN MOLECULAR GENETICS

An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

(2009) Hala Mégarbané et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

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

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

(2008) L. Van Maldergem et al.   NEUROLOGY