A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES revealed a novel homozygous frameshift variant in exo...

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Auteurs principaux: Mehran Kausar, Elaine Guo Yan Chew, Hazrat Ullah, Mariam Anees, Chiea Chuen Khor, Jia Nee Foo, Outi Makitie, Saima Siddiqi
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2019-03-01
Collection:Frontiers in Genetics
Sujets:
spondyloocular syndrome (SOS)
whole-exome-sequencing (WES)
osteoporosis
xylosyltransferase II (XYLT2)
cataract
Accès en ligne:https://www.frontiersin.org/article/10.3389/fgene.2019.00144/full
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