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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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