-transparent.png){kind=logo}
A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.
Related Publications
S Takahashi, and
M Matsufuji, and
C Yonee, and
H Tsuru, and
N Sano, and
H Oguni
January 2014,
European journal of human genetics : EJHG,
S Takahashi, and
M Matsufuji, and
C Yonee, and
H Tsuru, and
N Sano, and
H Oguni
April 1997,
American journal of human genetics,
S Takahashi, and
M Matsufuji, and
C Yonee, and
H Tsuru, and
N Sano, and
H Oguni
June 2017,
European journal of human genetics : EJHG,
S Takahashi, and
M Matsufuji, and
C Yonee, and
H Tsuru, and
N Sano, and
H Oguni
March 1998,
American journal of human genetics,
S Takahashi, and
M Matsufuji, and
C Yonee, and
H Tsuru, and
N Sano, and
H Oguni
August 2013,
Neuropediatrics,
S Takahashi, and
M Matsufuji, and
C Yonee, and
H Tsuru, and
N Sano, and
H Oguni
September 2000,
Human mutation,
S Takahashi, and
M Matsufuji, and
C Yonee, and
H Tsuru, and
N Sano, and
H Oguni
June 2012,
The Journal of clinical endocrinology and metabolism,
S Takahashi, and
M Matsufuji, and
C Yonee, and
H Tsuru, and
N Sano, and
H Oguni
May 2023,
Annals of clinical and translational neurology,
S Takahashi, and
M Matsufuji, and
C Yonee, and
H Tsuru, and
N Sano, and
H Oguni
August 2017,
Clinical journal of oncology nursing,
S Takahashi, and
M Matsufuji, and
C Yonee, and
H Tsuru, and
N Sano, and
H Oguni
November 2012,
European journal of medical genetics,
