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pro vyhledávání: '"P. Y. B. Au"'
Publikováno v:
Case Reports in Endocrinology, Vol 2018 (2018)
Background. Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. WS is characterized by insulin-requiring diabetes mellitus and
Externí odkaz:
https://doaj.org/article/dad2381656904fb99c057c9cf9bd4217
Autor:
S. Ordorica, E. Creede, David A. Dyment, Kym M. Boycott, L. Gallagher, D. Lahey, P. Y B Au, K. Mina, Stephanie Broley, Gareth Baynam, L. Huang
Publikováno v:
European Journal of Medical Genetics. 60:359-364
The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies. The X-chromosome is known to contain many ID-related genes and males show a marked predominance for intellectual disability. H
Publikováno v:
Case Reports in Endocrinology, Vol 2018 (2018)
Case Reports in Endocrinology
Case Reports in Endocrinology
Background.Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations inWFS1,a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. WS is characterized by insulin-requiring diabetes mellitus and op
Publikováno v:
Case Reports in Endocrinology; 2018, Vol. 2018 Issue: 1