A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

American Journal of Human Genetics - United States
doi 10.1086/508433
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Elsevier BV

Related search

Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

2020English

A Novel Splice Site Mutation in theRDXgene Causes DFNB24 Hearing Loss in an Iranian Family

American Journal of Medical Genetics, Part A
Genetics
2009English

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

BioMed Research International
ImmunologyMolecular BiologyBiochemistryMicrobiology MedicineGenetics
2018English

A Novel COCH Mutation, V104del, Impairs Folding of the LCCL Domain of Cochlin and Causes Progressive Hearing Loss

Journal of Medical Genetics
Genetics
2004English

A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

Molecular Medicine Reports
OncologyGeneticsMolecular BiologyBiochemistryCancer ResearchMolecular Medicine
2017English

Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene

Pediatric Research
Child HealthPediatricsPerinatology
2010English

Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

Zahedan Journal of Research in Medical Sciences
2016English

Mutation of COL11A2 Causes Autosomal Recessive Non-Syndromic Hearing Loss at the DFNB53 Locus

Journal of Medical Genetics
Genetics
2005English

Congenital Hearing Loss in Down Syndrome

Journal of Pediatrics
Child HealthPediatricsPerinatology
2015English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy