Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations

In selected cases, homozygosity mapping followed by direct sequencing of one or a few carefully selected candidate genes in a prenatal setting can be beneficial to obtain diagnosis in consanguineous families.

Detalles Bibliográficos
Autores principales: Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Janssens, Katrien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378824/
https://www.ncbi.nlm.nih.gov/pubmed/28396765
http://dx.doi.org/10.1002/ccr3.800
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author Muys, Joke
Blaumeiser, Bettina
Jacquemyn, Yves
Janssens, Katrien
author_facet Muys, Joke
Blaumeiser, Bettina
Jacquemyn, Yves
Janssens, Katrien
author_sort Muys, Joke
collection PubMed
description In selected cases, homozygosity mapping followed by direct sequencing of one or a few carefully selected candidate genes in a prenatal setting can be beneficial to obtain diagnosis in consanguineous families.
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spelling pubmed-53788242017-04-10 Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations Muys, Joke Blaumeiser, Bettina Jacquemyn, Yves Janssens, Katrien Clin Case Rep Case Reports In selected cases, homozygosity mapping followed by direct sequencing of one or a few carefully selected candidate genes in a prenatal setting can be beneficial to obtain diagnosis in consanguineous families. John Wiley and Sons Inc. 2017-03-01 /pmc/articles/PMC5378824/ /pubmed/28396765 http://dx.doi.org/10.1002/ccr3.800 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Muys, Joke
Blaumeiser, Bettina
Jacquemyn, Yves
Janssens, Katrien
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
title Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
title_full Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
title_fullStr Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
title_full_unstemmed Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
title_short Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
title_sort prenatal homozygosity mapping detects a novel mutation in chst3 in a fetus with skeletal dysplasia and joint dislocations
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378824/
https://www.ncbi.nlm.nih.gov/pubmed/28396765
http://dx.doi.org/10.1002/ccr3.800
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AT jacquemynyves prenatalhomozygositymappingdetectsanovelmutationinchst3inafetuswithskeletaldysplasiaandjointdislocations
AT janssenskatrien prenatalhomozygositymappingdetectsanovelmutationinchst3inafetuswithskeletaldysplasiaandjointdislocations

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