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Last Updated: 10/31/2025

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Found 1014 publications

Cutis Laxa Type 1 B with Recurrent E57K Variation.

Cutis Laxa Type 1 B with Recurrent E57K Variation.

Journal: Indian journal of dermatology
Published: September 08, 2025

Genes associated with genetic and rare lung diseases and the risk of lung cancer.

Genes associated with genetic and rare lung diseases and the risk of lung cancer.

Journal: Research square
Published: August 20, 2025

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Journal: Genes
Published: July 30, 2025

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.

Journal: Clinical genetics
Published: July 11, 2025

Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review.

Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review.

Journal: Frontiers in pediatrics
Published: April 24, 2025

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

Bilateral lung transplantation for pulmonary emphysema associated with cutis laxa.

Bilateral lung transplantation for pulmonary emphysema associated with cutis laxa.

Journal: JHLT open
Published: March 27, 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

A novel case of autosomal-dominant cutis laxa caused by a de novo likely pathogenic variant in ALDH18A1: case report and literature review.

A novel case of autosomal-dominant cutis laxa caused by a de novo likely pathogenic variant in ALDH18A1: case report and literature review.

Journal: Journal of human genetics
Published: February 28, 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

Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations.

Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: February 04, 2025
Showing 1-12 of 1,014

Last Updated: 10/31/2025