Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

Sharony, R

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing. [electronic resource] - Clinical genetics Dec 2017 - 645-648 p. digital

Publication Type: Journal Article

1399-0004

10.1111/cge.13020 doi


Abortion, Eugenic
Exome
Female
Gene Expression
Homozygote
Humans
Infant
Limb Deformities, Congenital--diagnosis
Male
Matrix Metalloproteinase 9--genetics
Mutation
Osteochondrodysplasias--diagnosis
Pedigree
Phenotype
Prenatal Diagnosis
Sequence Analysis, DNA
Siblings