Coffin-Lowry Syndrome Latest Advances

Find the Latest Research About Coffin-Lowry Syndrome

Last Updated: 04/28/2026

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Found 270 publications

Challenges in Diagnosis and Management of Coffin-Lowry Syndrome-Single-Center Experience.

Challenges in Diagnosis and Management of Coffin-Lowry Syndrome-Single-Center Experience.

Journal: Diagnostics (Basel, Switzerland)
Published: January 30, 2026

Cardiovascular Collapse During Scoliosis Surgery in a Patient With Coffin-Lowry Syndrome and Mesocardia.

Cardiovascular Collapse During Scoliosis Surgery in a Patient With Coffin-Lowry Syndrome and Mesocardia.

Journal: Cureus
Published: October 17, 2025

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

Journal: Frontiers in genetics
Published: September 29, 2025

Case report of breastfeeding after maternal iodine contrast: neonatal hypothyroidism revealing an underlying congenital disorder.

Case report of breastfeeding after maternal iodine contrast: neonatal hypothyroidism revealing an underlying congenital disorder.

Journal: International breastfeeding journal
Published: September 05, 2025

Case Report of One Family With Coffin-Lowry Syndrome and Literature Review of 28 Cases in China

Case Report of One Family With Coffin-Lowry Syndrome and Literature Review of 28 Cases in China

Journal: Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
Published: July 27, 2025

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: March 20, 2025

RSK2 and its binding partners: an emerging signaling node in cancers.

RSK2 and its binding partners: an emerging signaling node in cancers.

Journal: Archives of pharmacal research
Published: March 09, 2025

Coffin-Lowry Syndrome: A Case of Clinical Convergence for Psychology, Neuropsychology, Psychiatry, Genetics, and Neurology.

Coffin-Lowry Syndrome: A Case of Clinical Convergence for Psychology, Neuropsychology, Psychiatry, Genetics, and Neurology.

Journal: Journal of child neurology
Published: January 17, 2025

Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.

Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.

Journal: Epileptic disorders : international epilepsy journal with videotape
Published: December 19, 2024

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics
Published: July 31, 2024

The natural course of newborns with transient congenital hypothyroidism.

The natural course of newborns with transient congenital hypothyroidism.

Journal: Endocrine connections
Published: July 02, 2024

Airway management of a patient with coffin-lowry syndrome: a case report.

Airway management of a patient with coffin-lowry syndrome: a case report.

Journal: BMC anesthesiology
Published: May 23, 2024
Showing 1-12 of 270

Last Updated: 04/28/2026