A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine

A Holzinger; RA Mittal; W Kachel; H Priessmann; M Hammel; S Ihrler; Holger Till; HG Munch

doi:10.1002/ajmg.a.30975

A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine

A Holzinger
, RA Mittal
, W Kachel
, H Priessmann
, M Hammel
, S Ihrler
, Holger Till
, HG Munch

Publikation: Beitrag in Fachzeitschrift › Kurzbericht

6 Quellenangaben (Web of Science)

Originalsprache	Englisch
Fachzeitschrift	American Journal of Medical Genetics, Part A
DOIs	https://doi.org/10.1002/ajmg.a.30975
Publikationsstatus	Veröffentlicht - 2005

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302 Klinische Medizin

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10.1002/ajmg.a.30975

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title = "A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine",

author = "A Holzinger and RA Mittal and W Kachel and H Priessmann and M Hammel and S Ihrler and Holger Till and HG Munch",

year = "2005",

doi = "10.1002/ajmg.a.30975",

language = "English",

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

issn = "1552-4825",

publisher = "John Wiley and Sons Inc",

}

TY - JOUR

T1 - A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine

AU - Holzinger, A

AU - Mittal, RA

AU - Kachel, W

AU - Priessmann, H

AU - Hammel, M

AU - Ihrler, S

AU - Till, Holger

AU - Munch, HG

PY - 2005

Y1 - 2005

UR - https://www.webofscience.com/wos/woscc/full-record/WOS:000233059300012

U2 - 10.1002/ajmg.a.30975

DO - 10.1002/ajmg.a.30975

M3 - Research letter

SN - 1552-4825

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

ER -