학술논문

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.
Document Type
Article
Source
Frontiers in Genetics; 3/5/2019, pN.PAG-N.PAG, 7p
Subject
OSTEOPOROSIS
SHORT stature
DEAFNESS
VISION disorders
HOMOZYGOSITY
EXOMES
PHENOTYPES
Language
ISSN
16648021
Abstract
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