Two novel mutations in XYLT2 cause spondyloocular syndrome.
Am J Med Genet A
; 173(12): 3195-3200, 2017 Dec.
Article
em En
| MEDLINE
| ID: mdl-28884924
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
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Pentosiltransferases
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Catarata
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Descolamento Retiniano
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Oftalmopatias Hereditárias
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Anormalidades Craniofaciais
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Suécia