Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
about
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
P2860
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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name
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
@en
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
@nl
type
label
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
@en
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
@nl
prefLabel
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
@en
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
@nl
P2093
P2860
P356
P1476
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl
@en
P2093
Alain Calender
Audrey Labalme
Dorothée Ville
Gaetan Lesca
Nadia Boutry-Kryza
Patrick Edery
Renaud Touraine
Vincent des Portes
P2860
P304
P356
10.1002/AJMG.A.36547
P407
P577
2014-04-08T00:00:00Z