Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
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Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.Spectrum of combined respiratory chain defects.Mitochondrial cytochrome c biogenesis: no longer an enigma.Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.Microphthalmia with linear skin defects (MLS) syndrome: familial presentation.A mosaic form of microphthalmia with linear skin defects
P2860
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
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2014 nî lūn-bûn
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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2014 թվականի ապրիլին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Clinical spectrum of females w ...... r skin defects (MLS) syndrome.
@ast
Clinical spectrum of females w ...... r skin defects (MLS) syndrome.
@en
type
label
Clinical spectrum of females w ...... r skin defects (MLS) syndrome.
@ast
Clinical spectrum of females w ...... r skin defects (MLS) syndrome.
@en
prefLabel
Clinical spectrum of females w ...... r skin defects (MLS) syndrome.
@ast
Clinical spectrum of females w ...... r skin defects (MLS) syndrome.
@en
P2093
P2860
P356
P1476
Clinical spectrum of females w ...... r skin defects (MLS) syndrome.
@en
P2093
Anna Jauch
Augusta M A Lachmeijer
Bertrand Isidor
Christiane Zweier
Friederike K Kosyna
Helen Fryssira
Hiram Larangeira de Almeida
Isabella Rau
Madeleine Joubert
Sigrid Fuchs
P2860
P2888
P356
10.1186/1750-1172-9-53
P577
2014-04-15T00:00:00Z
P5875
P6179
1010213072