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Last Updated: 10/31/2025

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Found 198 publications

Congenital cutis laxa type IC in a newborn with a newly identified genetic variant.

Congenital cutis laxa type IC in a newborn with a newly identified genetic variant.

Journal: BMJ case reports
Published: April 07, 2025

Successful pre-implantation genetic testing for autosomal recessive cutis laxa: clinical utility of a multidisciplinary team approach.

Successful pre-implantation genetic testing for autosomal recessive cutis laxa: clinical utility of a multidisciplinary team approach.

Journal: Journal of assisted reproduction and genetics
Published: March 31, 2025

Corrigendum: 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.

Corrigendum: 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: March 06, 2025

Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder.

Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder.

Journal: Cureus
Published: February 07, 2025

Autosomal Recessive Cutis Laxa Type 1C with LTBP4 Mutation: Unmasking an Exceptional Case in the Indian Subcontinent.

Autosomal Recessive Cutis Laxa Type 1C with LTBP4 Mutation: Unmasking an Exceptional Case in the Indian Subcontinent.

Journal: Indian dermatology online journal
Published: October 15, 2024

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.

Journal: Frontiers in genetics
Published: June 22, 2024

Autosomal recessive cutis laxa type 1C with a compound heterozygous frame shift and nonsense LTBP4 variants.

Autosomal recessive cutis laxa type 1C with a compound heterozygous frame shift and nonsense LTBP4 variants.

Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: April 16, 2024

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.

Journal: Molecular genetics and genomics : MGG
Published: February 09, 2024

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

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.

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.

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.

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

Journal: Retinal cases & brief reports
Published: February 02, 2023
Showing 1-12 of 198

Last Updated: 10/31/2025