Cover Image

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients

Fuente: Wiley Open Access

Saved in:

Bibliographic Details
Main Authors:	Xiaoqiao Li, Ming Cheng, Min Liu, Wenjing Li, Yuchuan Li, Bingyan Cao, Liya Wei, Yuan Ding, Xi Meng, Lele Li, Chunxiu Gong
Format:	Artículo Open Access
Published:	Wiley 2025
Subjects:	Pediatric Investigation
Online Access:	Acceder al recurso
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Horner syndrome in a pediatric patient
by: Devansh Tandon, et al.
Published: (2025)

Clinical characteristics of anti‐neurofascin 155 antibody‐positive autoimmune nodopathy in children
by: Liya Cui, et al.
Published: (2025)

Double‐chambered left ventricle in a pediatric patient with tuberous sclerosis complex: A case report
by: Haoxuan Li, et al.
Published: (2026)

Clinical characteristics of Mycoplasma pneumoniae pneumonia with airway involvement in children
by: Baoying Zheng, et al.
Published: (2025)

Corneal characteristics in children with Marfan syndrome with or without ectopia lentis
by: Marisa O'Brien, et al.
Published: (2025)

Bilateral globus pallidus internus‐deep brain stimulation in a 5‐year‐old boy with SGCE‐related myoclonus dystonia syndrome
by: Xiaojuan Tian, et al.
Published: (2024)

Effectiveness and safety of perampanel for pediatric patients with epilepsy: A real‐world study from China
by: Xiaohui Wang, et al.
Published: (2025)

The transformative potential of artificial intelligence in pediatric medicine: Current applications, methodological challenges, and future directions
by: Ruisong Wang, et al.
Published: (2026)

Research progress of microvascular development in bronchopulmonary dysplasia
by: Jiaxin Zhang, et al.
Published: (2024)

Efficacy of microbial cell‐free DNA testing for detecting pathogens in pediatric patients with head and neck infections—An initial study
by: Audrey Xu, et al.
Published: (2025)

Epidemiology and the cost burden of hospitalized pediatric‐onset inflammatory bowel disease in China: A national database study
by: Xiaolu Nie, et al.
Published: (2025)

Spotlight on eltrombopag concentration in pediatric immune thrombocytopenia: A single‐center observational study in China
by: Shuyue Dong, et al.
Published: (2024)

The relative contributions of genetic and non‐genetic factors to the risk of neuroblastoma
by: Eun Mi Jung, et al.
Published: (2024)

Six artificial intelligence innovation strategies applied to autism spectrum disorder research: A narrative review
by: Ting Zhang, et al.
Published: (2026)

Demographic and socioeconomic characteristics of patients diagnosed with autism through the Rapid Interactive screening Test for Autism in Toddlers
by: Roula Choueiri, et al.
Published: (2024)

Low‐dose immune tolerance induction for severe hemophilia A inhibitor patients: Immunosuppressants are generally not necessary for inhibitor‐titer below 200 BU/mL
by: Zhengping Li, et al.
Published: (2024)

International outbreak of acute pediatric hepatitis: Was acetaminophen the missing link?
by: Stephen A. Hoption Cann
Published: (2024)

Outcomes after surgical and nonsurgical treatment of pediatric cerebral cavernous malformation
by: Haohao Zhang, et al.
Published: (2024)

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
by: Jihang Luo, et al.
Published: (2025)

Kaposiform hemangioendothelioma: Diagnosis and treatment
by: Yi Tian, et al.
Published: (2026)

Current situation and prospect for the diagnosis and treatment of pediatric critical rare diseases in China
by: Yingchao Liu, et al.
Published: (2024)

Applications and prospects of artificial intelligence and digital medicine in pediatric nasal skull base tumors
by: Xiuping Wu, et al.
Published: (2026)

Retrospective evaluation of palliative care consultation in critically ill adult and pediatric cancer subjects
by: Conrad Krawiec, et al.
Published: (2026)

Beyond accuracy metrics: Toward responsible integration of large language models in pediatric diagnostic reasoning
by: Masab Mansoor
Published: (2026)

Effectiveness and safety of tocilizumab combined with different high‐dose methylprednisolone regimens for acute necrotizing encephalopathy in children
by: Fei Li, et al.
Published: (2026)

Evidence map and gap analysis of metabolic change in pediatric growth hormone deficiency treated with growth hormone
by: Wei Wu, et al.
Published: (2026)

Long noncoding nuclear enriched abundant transcript 1_2 is a promising biomarker for childhood‐onset systemic lupus erythematosus
by: Shipeng Li, et al.
Published: (2024)

Drug‐induced hypersensitivity syndrome followed by exacerbation of Crohn's disease
by: Mei Kamidani, et al.
Published: (2026)

Bilateral infantile Frey syndrome mimicking food allergy: A case report
by: Yuki Ohara, et al.
Published: (2026)

The ketogenic diet alters microbiome‐metabolome profiles to improve West syndrome therapy
by: Gan Xie, et al.
Published: (2025)

Large‐language‐models for pediatric diagnosis: Performance evaluation using real‐world clinical notes from common and rare cases
by: Cristian Launes, et al.
Published: (2026)

Research progress on hippocampal neurogenesis in autism spectrum disorder
by: Mengxiang Chen, et al.
Published: (2024)

Psychometric properties of the Child and Adolescent Behavior Inventory in Chinese children aged 8–11 years
by: Hui Xu, et al.
Published: (2026)

Academic burnout and internet gaming disorder in Chinese adolescents: The chain mediating roles of depressive symptoms and negative attentional bias
by: Yalei Li, et al.
Published: (2026)

Novel variants and phenotypes of ROBO3 gene associated with horizontal gaze palsy with progressive scoliosis
by: Yan Xie, et al.
Published: (2024)

Clinical guideline for postoperative nutrition support in neonates with enterostomy (2024)
Published: (2025)

Comparative analysis of formulae for umbilical venous catheterization depth based on birth weight
by: Jingjie Luo, et al.
Published: (2024)

Network analysis of psychological problems in school‐attending students aged 6–16 years in China: A comparison between rural and urban areas
by: Lianjingyi Liang, et al.
Published: (2026)

Infectious mononucleosis complicated with Kawasaki disease: Two case reports and literature review
by: Mengjia Liu, et al.
Published: (2025)

Predicting brain age in children aged 2–6 years with autism spectrum disorders using routine T1‐ and T2‐weighted magnetic resonance imaging
by: Zunying Hu, et al.
Published: (2026)