Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Kabukisyndrom

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Harvard

APA

CBE

MLA

Vancouver

Author

Bibtex

@article{4486e7cf43714900a247935002c9eb5d,
title = "Kabukisyndrom",
abstract = "A clinical case of the rare Kabuki syndrome is described in a 2-year-old boy. At the time of birth he was diagnosed with cleft palate and from the age of six months he presented with unusual facial features and slow psychomotoric development. At the age of two he has no language and only minimal speech perception and is showing signs of growth retardation.",
author = "Petersen, {Rikke B{\o}rthy} and Pernille Lindholm and Bonde, {Christian T}",
year = "2010",
month = "5",
day = "3",
language = "Dansk",
volume = "172",
pages = "1384--5",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "18",

}

RIS

TY - JOUR

T1 - Kabukisyndrom

AU - Petersen, Rikke Børthy

AU - Lindholm, Pernille

AU - Bonde, Christian T

PY - 2010/5/3

Y1 - 2010/5/3

N2 - A clinical case of the rare Kabuki syndrome is described in a 2-year-old boy. At the time of birth he was diagnosed with cleft palate and from the age of six months he presented with unusual facial features and slow psychomotoric development. At the age of two he has no language and only minimal speech perception and is showing signs of growth retardation.

AB - A clinical case of the rare Kabuki syndrome is described in a 2-year-old boy. At the time of birth he was diagnosed with cleft palate and from the age of six months he presented with unusual facial features and slow psychomotoric development. At the age of two he has no language and only minimal speech perception and is showing signs of growth retardation.

M3 - Tidsskriftartikel

VL - 172

SP - 1384

EP - 1385

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 18

ER -

ID: 32221770