An Unusual Mutation in RECQ4 Gene Leading to Rothmund–Thomson Syndrome

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis - Netherlands
doi 10.1016/s0027-5107(02)00189-6
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Elsevier BV

Related search

Rothmund-Thomson Syndrome

2020English

Clinical Utility Gene Card For: Rothmund–Thomson Syndrome

European Journal of Human Genetics
Genetics
2012English

Leg Ulcer in a Patient With Rothmund–Thomson Syndrome

SpringerPlus
Multidisciplinary
2015English

Ciprofloxacin Exposure Leading to Fatal Hepatotoxicity: An Unusual Correlation

American Journal of Case Reports
Medicine
2016English

Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene

Child Neurology
2017English

Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation

Annals of Thoracic Surgery
Respiratory MedicinePulmonaryCardiovascular MedicineSurgeryCardiology
2016English

An Unusual Cause for Nephrotic Syndrome: Nephrotic Syndrome Due to Metformin

Turkish Nephrology, Dialysis and Transplantation Journal
SurgeryUrology
2016English

Whole Exome Sequencing Identifies a New Mutation in the SLC19A2 Gene Leading to Thiamine‐responsive Megaloblastic Anemia in an Egyptian Family

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Lemierre's Syndrome: An Unusual Presentation

The Internet Journal of Otorhinolaryngology
2007English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy