Cardiomyopathic Lentiginosis Latest Advances

PTPN11 variants in four Chinese patients: a case series and genotype-phenotype analysis.

Journal: European journal of dermatology : EJD

Published: August 31, 2026

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

Journal: Clinical genetics

Published: April 15, 2026

A novel homozygous PPP1R13L frameshift variant in a child with syndromic dilated cardiomyopathy and fatal arrhythmia.

Journal: Cardiology in the young

Published: April 01, 2026

Dysregulated TGFβ-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis.

Journal: bioRxiv : the preprint server for biology

Published: February 06, 2026

Co-Occurrence of Agminated Lentigines, Café-Au-Lait Macules, and Vitiligo: A Case Report and Literature Review.

Journal: Clinical case reports

Published: February 05, 2026

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Journal: Cureus

Published: January 11, 2026

Understanding Molecular Basis of PTPN11-Related Diseases.

Journal: ArXiv

Published: January 02, 2026

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Journal: Clinical genetics

Published: December 27, 2025

Efficacy of Q-switched alexandrite laser therapy in a Chinese patient with LEOPARD syndrome.

Journal: European journal of dermatology : EJD

Published: November 24, 2025

Cryptosporidium varanii Infection in Captive Leopard Gecko (Eublepharis macularius) and Its Association with Wasting Syndrome in Thailand.

Journal: Animals : an open access journal from MDPI

Published: November 13, 2025

SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: August 25, 2025

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms.

Journal: American journal of medical genetics. Part A

Published: August 12, 2025

Cardiomyopathic Lentiginosis Latest Advances

Find the Latest Research About Cardiomyopathic Lentiginosis

PTPN11 variants in four Chinese patients: a case series and genotype-phenotype analysis.

PTPN11 variants in four Chinese patients: a case series and genotype-phenotype analysis.

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

A novel homozygous PPP1R13L frameshift variant in a child with syndromic dilated cardiomyopathy and fatal arrhythmia.

A novel homozygous PPP1R13L frameshift variant in a child with syndromic dilated cardiomyopathy and fatal arrhythmia.

Dysregulated TGFβ-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis.

Dysregulated TGFβ-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis.

Co-Occurrence of Agminated Lentigines, Café-Au-Lait Macules, and Vitiligo: A Case Report and Literature Review.

Co-Occurrence of Agminated Lentigines, Café-Au-Lait Macules, and Vitiligo: A Case Report and Literature Review.

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Understanding Molecular Basis of PTPN11-Related Diseases.

Understanding Molecular Basis of PTPN11-Related Diseases.

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Efficacy of Q-switched alexandrite laser therapy in a Chinese patient with LEOPARD syndrome.

Efficacy of Q-switched alexandrite laser therapy in a Chinese patient with LEOPARD syndrome.

Cryptosporidium varanii Infection in Captive Leopard Gecko (Eublepharis macularius) and Its Association with Wasting Syndrome in Thailand.

Cryptosporidium varanii Infection in Captive Leopard Gecko (Eublepharis macularius) and Its Association with Wasting Syndrome in Thailand.

SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.

SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms.

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms.