In:
American Journal of Medical Genetics Part A, Wiley, Vol. 173, No. 12 ( 2017-12), p. 3195-3200
Abstract:
We report on two new patients with spondyloocular syndrome. Both patients harbor novel homozygous mutations in the XYLT2 gene. The patients present severe generalized osteoporosis, multiple fractures, short stature, cataract, and mild hearing impairment. XYLT2 mutations have been identified in spondyloocular syndrome, however only five mutations have been reported previously. These two patients with novel mutations extend the phenotypic and genotypic spectrum of spondyloocular syndrome.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v173.12
DOI:
10.1002/ajmg.a.38470
Language:
English
Publisher:
Wiley
Publication Date:
2017
detail.hit.zdb_id:
1493479-6
detail.hit.zdb_id:
2108614-X
SSG:
12