Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with hirschsprung disease

Guido Fitze; Inke R. König; Ekkehart Paditz; Alexandre Serra; Marianne Schläfke; Dietmar Roesner; Andreas Ziegler; Hans K. Schackert

doi:10.1002/ajmg.a.32300

Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with hirschsprung disease

Guido Fitze^*, Inke R. König, Ekkehart Paditz, Alexandre Serra, Marianne Schläfke, Dietmar Roesner, Andreas Ziegler, Hans K. Schackert

^*Corresponding author for this work

Institute of Medical Biometry and Statistic

18 Citations (Scopus)

Original language	English
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	11
Pages (from-to)	1486-1489
Number of pages	4
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.32300
Publication status	Published - 01.06.2008

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10.1002/ajmg.a.32300

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title = "Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with hirschsprung disease",

author = "Guido Fitze and K{\"o}nig, \{Inke R.\} and Ekkehart Paditz and Alexandre Serra and Marianne Schl{\"a}fke and Dietmar Roesner and Andreas Ziegler and Schackert, \{Hans K.\}",

year = "2008",

month = jun,

day = "1",

doi = "10.1002/ajmg.a.32300",

language = "English",

volume = "146",

pages = "1486--1489",

journal = "American Journal of Medical Genetics, Part A",

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TY - JOUR

T1 - Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with hirschsprung disease

AU - Fitze, Guido

AU - König, Inke R.

AU - Paditz, Ekkehart

AU - Serra, Alexandre

AU - Schläfke, Marianne

AU - Roesner, Dietmar

AU - Ziegler, Andreas

AU - Schackert, Hans K.

PY - 2008/6/1

Y1 - 2008/6/1

UR - https://www.scopus.com/pages/publications/44449166018

U2 - 10.1002/ajmg.a.32300

DO - 10.1002/ajmg.a.32300

M3 - Letters

C2 - 18438890

AN - SCOPUS:44449166018

SN - 1552-4825

VL - 146

SP - 1486

EP - 1489

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -

Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with hirschsprung disease

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