Associated Papers
Leukocyte adhesion deficiency type III in an infant presenting with intestinal perforation and low percentage of natural killer cells: first case report from Iran.
Chavoshzadeh Z et al.
Bmc Pediatrics, 2025
Case Report: Early diagnosis of LAD-III in newborn with persistent leukocytosis and hemangioma-like lesion of the urinary bladder.
Pagani R et al.
Frontiers in Pediatrics, 2025
Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.
Kahraman AB et al.
Journal of Clinical Immunology, 2023
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family.
Köker N et al.
Journal of Clinical Immunology, 2023
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2023
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
van Eyk CL et al.
Npj Genomic Medicine, 2021
34531397 (PubMed )
Supplement: 41525_2021_238_MOESM1_ESM.pdf
Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis.
Yahya AM et al.
Frontiers in Pediatrics, 2021
A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family.
Shahid S et al.
Frontiers in Genetics, 2019
Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.
Nagy M et al.
Haematologica, 2018
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.
Bhoj EJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.
Palagano E et al.
Bone, 2017
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E et al.
Blood Cells, Molecules & Diseases, 2012
A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion.
Robert P et al.
Journal of Immunology (baltimore, Md. : 1950), 2011
Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.
Jurk K et al.
Thrombosis and Haemostasis, 2010
LAD-1/variant syndrome is caused by mutations in FERMT3.
Kuijpers TW et al.
Blood, 2009
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