Novel In-Frame FLNB Deletion Causes Larsen Syndrome in a Three-Generation Pedigree

Cold Spring Harbor molecular case studies - United States
doi 10.1101/mcs.a004176
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Cold Spring Harbor Laboratory

Related search

Novel Deletion Mutation in the Cardiac Sodium Channel Inactivation Gate Causes Long QT Syndrome

International Journal of Cardiology
Cardiovascular MedicineCardiology
2013English

A Large PROP1 Gene Deletion in a Turkish Pedigree

Case Reports in Endocrinology
EndocrinologyMetabolismDiabetes
2018English

Anaesthesia Experience in a Larsen Syndrome: Case Report

Turkiye Klinikleri Journal of Case Reports
2015English

Genetic Deletion of Lsamp Causes Exaggerated Behavioral Activation in Novel Environments

Behavioural Brain Research
Behavioral Neuroscience
2007English

Aggressive Periodontitis Associated With Kindler Syndrome in a Large Kindler Syndrome Pedigree

Turkish Journal of Pediatrics
Child HealthPediatricsPerinatology
2017English

A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

Molecular Medicine Reports
OncologyGeneticsMolecular BiologyBiochemistryCancer ResearchMolecular Medicine
2017English

Rac Deletion in Osteoclasts Causes Severe Osteopetrosis

Journal of Cell Science
Cell Biology
2011English

Novel 47.5-Kb Deletion in RAB27A Results in Severe Griscelli Syndrome Type 2

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2010English

A Novel Gene Mutation in Berardinelli Seip Syndrome: Three Case Reports

Endocrine Abstracts
2016English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy