Autosomal Recessive Cutis Laxa Type 1 Latest Advances

ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant.

Journal: American journal of medical genetics. Part A

Published: October 22, 2025

Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.

Journal: The Journal of dermatology

Published: September 29, 2025

Beyond the genome: a rare case report of cutis laxa.

Journal: AME case reports

Published: September 22, 2025

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Journal: Clinical genetics

Published: July 11, 2025

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.

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.

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.

Journal: Cureus

Published: February 07, 2025

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.

Journal: Frontiers in genetics

Published: June 22, 2024

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.

Journal: Molecular genetics and genomics : MGG

Published: February 09, 2024

Autosomal Recessive Cutis Laxa Type 1 Latest Advances

Find the Latest Research About Autosomal Recessive Cutis Laxa Type 1

ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant.

ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant.

Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.

Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.

Beyond the genome: a rare case report of cutis laxa.

Beyond the genome: a rare case report of cutis laxa.

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

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.

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.

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.

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.

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.

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.

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.

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.