Cardiomyopathic Lentiginosis Latest Advances

Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Published: November 11, 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

Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report

Journal: Rinsho shinkeigaku = Clinical neurology

Published: July 24, 2025

Noonan Syndrome With Multiple Lentigines Mimicking Obstructive Hypertrophic Cardiomyopathy Treated by Septal Myectomy.

Journal: JACC. Case reports

Published: July 04, 2025

Rapamycin treatment for progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines.

Journal: Kardiologia polska

Published: June 04, 2025

Cardiomyopathic Lentiginosis Latest Advances

Find the Latest Research About Cardiomyopathic Lentiginosis

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.

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.

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.

Clinical phenotypes and cochlear implant outcomes in patients with PTPN11-associated noonan spectrum disorders: Insights from a genetically screened cohort.

Clinical phenotypes and cochlear implant outcomes in patients with PTPN11-associated noonan spectrum disorders: Insights from a genetically screened cohort.

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.

Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report

Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report

Noonan Syndrome With Multiple Lentigines Mimicking Obstructive Hypertrophic Cardiomyopathy Treated by Septal Myectomy.

Noonan Syndrome With Multiple Lentigines Mimicking Obstructive Hypertrophic Cardiomyopathy Treated by Septal Myectomy.

Rapamycin treatment for progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines.

Rapamycin treatment for progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines.