Coffin–Lowry Syndrome

RC Rogers - Cassidy and Allanson's Management of Genetic …, 2021 - Wiley Online Library
Coffin–Lowry syndrome is a distinctive X‐linked dominantly inherited condition that has a
birth prevalence of about 1 in 50,000 and is caused by mutations in the RPS6KA3 gene …

Growth concerns in coffin–lowry syndrome: a case report and literature review

Y Lv, L Zhu, J Zheng, D Wu, J Shao - Frontiers in Pediatrics, 2019 - frontiersin.org
Mutation of RPS6KA3 can induce Coffin–Lowry syndrome, an X-linked syndrome. The case
here reported manifests its signature characteristic of short stature, facial dysmorphism …

Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion

Y Cong, H Jin, K Wu, H Wang, D Wang - Frontiers in Genetics, 2022 - frontiersin.org
Background: Coffin–Lowry syndrome (CLS)[OMIM# 303600] is a rare X-linked dominant
syndrome. CLS is caused by highly heterogeneous loss-of-function mutations in the …

Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins

H Jin, H Li, S Qiang - Medicina, 2022 - mdpi.com
Background and objectives: Coffin-Lowry Syndrome (CLS), a rare neurodegenerative
disorder, is mainly diagnosed based on clinical manifestations and molecular analyses. In …

[PDF][PDF] Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome

G Imataka, I Nakajima, K Goto, W Konno… - Eur Rev Med …, 2016 - europeanreview.org
Some cases of Coffin-Lowry syn-drome recognized episodic drops and it tended to be
intractable for medical treatment. We reported here a patient with the Coffin-Lowry syndrome …

Significance of thalamic hyperperfusion patterns in computed tomography perfusion in patients with nonconvulsive status epilepticus: possible utility in predicting …

GM Sohn - Annals of Clinical Neurophysiology, 2024 - e-acn.org
Background This study aimed to determine the characteristics of computed tomography
perfusion (CTP) patterns and their utility in predicting antiseizure medication (ASM) …

[HTML][HTML] RPS6KA3-Related intellectual disability

RC Rogers, FE Abidi - 2018 - europepmc.org
The phenotypic spectrum associated with RPS6KA3 pathogenic variants is a continuum.
Coffin-Lowry syndrome (CLS) classically manifests in males with developmental delay …

[HTML][HTML] RPS6KA3-Related Intellectual Disability

MRI Brain - europepmc.org
The phenotypic spectrum associated with RPS6KA3 pathogenic variants is a continuum.
Coffin-Lowry syndrome (CLS) classically manifests in males with developmental delay …