The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl

Olaf Rittinger; Gabriela Kronberger; Andrea Pfeifenberger; Dieter Kotzot; Christine Fauth

doi:10.1016/j.ejmg.2008.07.004

The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl

Olaf Rittinger, Gabriela Kronberger, Andrea Pfeifenberger, Dieter Kotzot, Christine Fauth

Research output: Contribution to journal › Original Article (Journal) › peer-review

18 Citations (Web of Science)

Original language	English
Pages (from-to)	573-579
Journal	EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume	51
Issue number	6
DOIs	https://doi.org/10.1016/j.ejmg.2008.07.004
Publication status	Published - 2008

Keywords

MARUGO-COHEN-SYNDROME
MIXOPLOIDY
CHIMERISM
DIAGNOSIS

Access to Document

10.1016/j.ejmg.2008.07.004

Cite this

@article{164a9059478c4ed6ad563c4349904e3d,

title = "The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl",

keywords = "MARUGO-COHEN-SYNDROME, MIXOPLOIDY, CHIMERISM, DIAGNOSIS",

author = "Olaf Rittinger and Gabriela Kronberger and Andrea Pfeifenberger and Dieter Kotzot and Christine Fauth",

year = "2008",

doi = "10.1016/j.ejmg.2008.07.004",

language = "English",

volume = "51",

pages = "573--579",

journal = "EUROPEAN JOURNAL OF MEDICAL GENETICS",

issn = "1769-7212",

publisher = "Elsevier ",

number = "6",

}

The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl. / Rittinger, Olaf; Kronberger, Gabriela; Pfeifenberger, Andrea et al.
In: EUROPEAN JOURNAL OF MEDICAL GENETICS, Vol. 51, No. 6, 2008, p. 573-579.

Research output: Contribution to journal › Original Article (Journal) › peer-review

TY - JOUR

T1 - The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl

AU - Rittinger, Olaf

AU - Kronberger, Gabriela

AU - Pfeifenberger, Andrea

AU - Kotzot, Dieter

AU - Fauth, Christine

PY - 2008

Y1 - 2008

KW - MARUGO-COHEN-SYNDROME

KW - MIXOPLOIDY

KW - CHIMERISM

KW - DIAGNOSIS

U2 - 10.1016/j.ejmg.2008.07.004

DO - 10.1016/j.ejmg.2008.07.004

M3 - Original Article (Journal)

C2 - 18706534

SN - 1769-7212

VL - 51

SP - 573

EP - 579

JO - EUROPEAN JOURNAL OF MEDICAL GENETICS

JF - EUROPEAN JOURNAL OF MEDICAL GENETICS

IS - 6

ER -