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Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome
Author(s) -
Shen W.,
Young B.A.,
Bosworth M.,
Wright K.E.,
Lamb A.N.,
Ji Y.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13164
Subject(s) - uniparental disomy , pterygium , biology , genetics , chromosome , medicine , karyotype , gene , biochemistry