Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series
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Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation.Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.Variable phenotype in a novel mutation in PHOX2B.Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
P2860
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series
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2013 nî lūn-bûn
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2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2013 թվականի ապրիլին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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name
Extreme intra-familial variabi ...... lation syndrome: a case series
@ast
Extreme intra-familial variabi ...... lation syndrome: a case series
@en
Extreme intra-familial variabi ...... lation syndrome: a case series
@nl
type
label
Extreme intra-familial variabi ...... lation syndrome: a case series
@ast
Extreme intra-familial variabi ...... lation syndrome: a case series
@en
Extreme intra-familial variabi ...... lation syndrome: a case series
@nl
prefLabel
Extreme intra-familial variabi ...... lation syndrome: a case series
@ast
Extreme intra-familial variabi ...... lation syndrome: a case series
@en
Extreme intra-familial variabi ...... lation syndrome: a case series
@nl
P2093
P2860
P356
P1476
Extreme intra-familial variabi ...... lation syndrome: a case series
@en
P2093
Edmond G Lemire
Elizabeth Bygarski
Melanie Paterson
P2860
P2888
P356
10.1186/1752-1947-7-117
P407
P577
2013-04-26T00:00:00Z
P5875
P6179
1043432286