A case of Björnstad syndrome caused by novel compound heterozygous mutations in theBCS1Lgene

Authors :: Yoshiyuki Kawamoto
Takeshi Yanagishita
Nobuhiko Taguchi
Kazumitsu Sugiura
Masashi Akiyama
Yuki Marubashi
Keiko Ito
Daisuke Watanabe
Source :: British Journal of Dermatology. 170:970-973
Publication Year :: 2014
Publisher :: Oxford University Press (OUP), 2014.

Subjects :: Genetics
Hearing loss
Mutation (genetic algorithm)
medicine
Björnstad syndrome
Heterozygote advantage
Dermatology
BCS1L gene
medicine.symptom
Biology
Compound heterozygosity
medicine.disease
AAA proteins

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