A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

Frontiers in Genetics - Switzerland
doi 10.3389/fgene.2020.00143
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Frontiers Media SA

Related search

A Novel FBN2 Mutation Cosegregates With Congenital Contractural Arachnodactyly in a Five-Generation Chinese Family

Clinical Case Reports
Medicine
2018English

Identification of a Novel Missense FBN2 Mutation in a Chinese Family With Congenital Contractural Arachnodactyly Using Exome Sequencing

PLoS ONE
Multidisciplinary
2016English

Mutation Analysis of Fibrillin-2 (FBN2) and Microfibril Associated Protein-3 (MFAP-3): Two Genes Associated With Congenital Contractural Arachnodactyly (CCA), Also Known as Beal's Syndrome

2000English

A Novel MIP Gene Mutation Analysis in a Chinese Family Affected With Congenital Progressive Punctate Cataract

PLoS ONE
Multidisciplinary
2014English

A Novel Mutation in the TG Gene (G2322S) Causing Congenital Hypothyroidism in a Sudanese Family: A Case Report

BMC Medical Genetics
Genetics
2018English

Contractural Arachnodactyly Versus Marfan's Syndrome.

Archives of Disease in Childhood
Child HealthPediatricsPerinatology
1990English

Identification and Functional Analysis of a Novel MIP Gene Mutation Associated With Congenital Cataract in a Chinese Family

PLoS ONE
Multidisciplinary
2015English

Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report

BMC Pediatrics
Child HealthPediatricsPerinatology
2019English

Novel Mutation in GJB4 Gene (Connexin 30.3) in a Family With Erythrokeratodermia Variabilis

Acta Dermato-Venereologica
DermatologyMedicine
2013English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy