Autosomal Recessive Cutis Laxa Type 1 Latest Advances

Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene.

Journal: Frontiers in genetics

Published: June 22, 2024

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.

Journal: Molecular genetics and genomics : MGG

Published: February 09, 2024

Corkscrew Mesenteric Arteries and Tortuous Descending Aorta in Autosomal Recessive Cutis Laxa.

Journal: Radiology. Cardiothoracic imaging

Published: January 02, 2024

Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.

Journal: European heart journal. Case reports

Published: February 24, 2023

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

Journal: The journal of gene medicine

Published: February 17, 2023

NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A.

Journal: Retinal cases & brief reports

Published: February 02, 2023

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

Analysis of clinical features and genetic variants in a child with autosomal recessive cutis laxa due to variants of ATP6V0A2 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: October 02, 2022

A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.

Journal: Irish journal of medical science

Published: September 19, 2022

Autosomal recessive cutis laxa type Ib-Successful redo aortic root and arch replacement.

Journal: Clinical case reports

Published: July 06, 2022

Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa.

Journal: Clinical and experimental dermatology

Published: June 16, 2022

Customize your search results with filters

Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene.

Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene.

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.

Corkscrew Mesenteric Arteries and Tortuous Descending Aorta in Autosomal Recessive Cutis Laxa.

Corkscrew Mesenteric Arteries and Tortuous Descending Aorta in Autosomal Recessive Cutis Laxa.

Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.

Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A.

NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A.

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

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

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

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

Analysis of clinical features and genetic variants in a child with autosomal recessive cutis laxa due to variants of ATP6V0A2 gene

Analysis of clinical features and genetic variants in a child with autosomal recessive cutis laxa due to variants of ATP6V0A2 gene

A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.

A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.

Autosomal recessive cutis laxa type Ib-Successful redo aortic root and arch replacement.

Autosomal recessive cutis laxa type Ib-Successful redo aortic root and arch replacement.

Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa.

Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa.