Compound effect ofPHOX2BandRETgene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease
about
QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations.Contributions of PHOX2B in the pathogenesis of Hirschsprung diseaseCongenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation.An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Advances in molecular genetics of Hirschsprung's disease.Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Knockout mouse models of Hirschsprung's disease.Epidemiologic survey of patients with congenital central hypoventilation syndrome in Japan.
P2860
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P2860
Compound effect ofPHOX2BandRETgene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease
description
im Juni 2008 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 June 2008
@en
wetenschappelijk artikel
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наукова стаття, опублікована в червні 2008
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name
Compound effect ofPHOX2BandRET ...... ined with Hirschsprung disease
@en
Compound effect ofPHOX2BandRET ...... ined with Hirschsprung disease
@nl
type
label
Compound effect ofPHOX2BandRET ...... ined with Hirschsprung disease
@en
Compound effect ofPHOX2BandRET ...... ined with Hirschsprung disease
@nl
prefLabel
Compound effect ofPHOX2BandRET ...... ined with Hirschsprung disease
@en
Compound effect ofPHOX2BandRET ...... ined with Hirschsprung disease
@nl
P2093
P356
P1476
Compound effect of PHOX2B and ...... ined with Hirschsprung disease
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P2093
Alexandre Serra
Dietmar Roesner
Ekkehart Paditz
Guido Fitze
Hans K Schackert
Marianne Schläfke
P304
P356
10.1002/AJMG.A.32300
P407
P577
2008-06-01T00:00:00Z