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
Descripción
Sumario: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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