Variable human phenotype associated with novel deletions of the PHOX2B gene.
about
Distinct neuroblastoma-associated alterations of PHOX2B impair sympathetic neuronal differentiation in zebrafish modelsAntibiotic management of lung infections in cystic fibrosis. I. The microbiome, methicillin-resistant Staphylococcus aureus, gram-negative bacteria, and multiple infectionsContributions of PHOX2B in the pathogenesis of Hirschsprung diseaseProceedings of the fourth international conference on central hypoventilation.Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung's Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster.PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
P2860
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P2860
Variable human phenotype associated with novel deletions of the PHOX2B gene.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
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2011年學術文章
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2011年學術文章
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name
Variable human phenotype associated with novel deletions of the PHOX2B gene.
@en
Variable human phenotype associated with novel deletions of the PHOX2B gene.
@nl
type
label
Variable human phenotype associated with novel deletions of the PHOX2B gene.
@en
Variable human phenotype associated with novel deletions of the PHOX2B gene.
@nl
prefLabel
Variable human phenotype associated with novel deletions of the PHOX2B gene.
@en
Variable human phenotype associated with novel deletions of the PHOX2B gene.
@nl
P2093
P2860
P356
P1476
Variable human phenotype associated with novel deletions of the PHOX2B gene.
@en
P2093
Casey M Rand
Debra E Weese-Mayer
Elizabeth M Berry-Kravis
Lawrence J Jennings
Nicole Kravis
Pallavi P Patwari
P2860
P304
P356
10.1002/PPUL.21527
P577
2011-08-09T00:00:00Z