Juvenil polypose-syndrom og hereditær hæmoragisk telangiektasi hos en patient med SMAD4-mutation

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Germ line mutations in SMAD4 can cause both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome. In this case we present a 37-year-old man with a frameshift mutation in SMAD4. The patient had multiple polyps in the gastrointestinal tract and was diagnosed with colon cancer at the age of 21 and gastro-oesophageal junction cancer at the age of 37. Furthermore the patient had telangiectasias and recurrent epistaxis.

OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind176
Udgave nummer44
Sider (fra-til)2081-2082
ISSN0041-5782
StatusUdgivet - 27. okt. 2014

Fingeraftryk

Frameshift Mutation
Mutation
Epistaxis
Germ-Line Mutation
Esophageal Neoplasms
Colonic Neoplasms
Gastrointestinal Tract
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia

Citer dette

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title = "Juvenil polypose-syndrom og heredit{\ae}r h{\ae}moragisk telangiektasi hos en patient med SMAD4-mutation",
abstract = "Germ line mutations in SMAD4 can cause both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome. In this case we present a 37-year-old man with a frameshift mutation in SMAD4. The patient had multiple polyps in the gastrointestinal tract and was diagnosed with colon cancer at the age of 21 and gastro-oesophageal junction cancer at the age of 37. Furthermore the patient had telangiectasias and recurrent epistaxis.",
author = "Jelsig, {Anne Marie} and T{\o}rring, {Pernille Mathiesen} and Friedrik Wikman and Mortensen, {Michael Bau} and Niels Qvist and Ousager, {Lilian Bomme}",
year = "2014",
month = "10",
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language = "Dansk",
volume = "176",
pages = "2081--2082",
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Juvenil polypose-syndrom og hereditær hæmoragisk telangiektasi hos en patient med SMAD4-mutation. / Jelsig, Anne Marie; Tørring, Pernille Mathiesen; Wikman, Friedrik; Mortensen, Michael Bau; Qvist, Niels; Ousager, Lilian Bomme.

I: Ugeskrift for Laeger, Bind 176, Nr. 44, 27.10.2014, s. 2081-2082.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Juvenil polypose-syndrom og hereditær hæmoragisk telangiektasi hos en patient med SMAD4-mutation

AU - Jelsig, Anne Marie

AU - Tørring, Pernille Mathiesen

AU - Wikman, Friedrik

AU - Mortensen, Michael Bau

AU - Qvist, Niels

AU - Ousager, Lilian Bomme

PY - 2014/10/27

Y1 - 2014/10/27

N2 - Germ line mutations in SMAD4 can cause both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome. In this case we present a 37-year-old man with a frameshift mutation in SMAD4. The patient had multiple polyps in the gastrointestinal tract and was diagnosed with colon cancer at the age of 21 and gastro-oesophageal junction cancer at the age of 37. Furthermore the patient had telangiectasias and recurrent epistaxis.

AB - Germ line mutations in SMAD4 can cause both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome. In this case we present a 37-year-old man with a frameshift mutation in SMAD4. The patient had multiple polyps in the gastrointestinal tract and was diagnosed with colon cancer at the age of 21 and gastro-oesophageal junction cancer at the age of 37. Furthermore the patient had telangiectasias and recurrent epistaxis.

M3 - Tidsskriftartikel

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JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

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