De Barsy Syndrome Latest Advances

De Barsy Syndrome: A Case Report of a Rare Genetic Disorder.

Journal: Cureus

Published: January 02, 2023

Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature.

Journal: Ophthalmic genetics

Published: December 16, 2022

Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.

Journal: Advances in experimental medicine and biology

Published: November 22, 2021

A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.

Journal: La Clinica terapeutica

Published: December 21, 2020

Clinical implications of de Barsy syndrome.

Journal: Paediatric anaesthesia

Published: October 13, 2017

De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities.

Journal: Clinical dysmorphology

Published: July 06, 2016

A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited.

Journal: Indian journal of dermatology

Published: March 09, 2016

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Journal: American journal of human genetics

Published: May 22, 2015

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Journal: Molecular genetics and metabolism

Published: March 18, 2014

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Journal: Molecular genetics and metabolism

Published: June 16, 2013

A case of de Barsy syndrome with a severe eye phenotype.

Journal: American journal of medical genetics. Part A

Published: February 20, 2012

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

Journal: American journal of medical genetics. Part A

Published: August 31, 2011