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Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseClinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.
P2860
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
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2012年學術文章
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2012年學術文章
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2012年學術文章
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name
Fourteen-month-old girl with facial skin thinning.
@en
Fourteen-month-old girl with facial skin thinning.
@nl
type
label
Fourteen-month-old girl with facial skin thinning.
@en
Fourteen-month-old girl with facial skin thinning.
@nl
prefLabel
Fourteen-month-old girl with facial skin thinning.
@en
Fourteen-month-old girl with facial skin thinning.
@nl
P2093
P2860
P1476
Fourteen-month-old girl with facial skin thinning.
@en
P2093
Christine Moorhead
Jonathan Zumwalt
Linda Golkar
P2860
P304
P356
10.1111/J.1525-1470.2011.01632.X
P577
2012-03-01T00:00:00Z