Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.

Anne Frühmesser; Edda Haberlandt; Werner Judmaier; Albert Schinzel; Barbara Utermann; Martin Erdel; Christine Fauth; Gerd Utermann; Johannes Zschocke; Dieter Kotzot

doi:10.1002/ajmg.a.35450

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.

Anne Frühmesser, Edda Haberlandt, Werner Judmaier, Albert Schinzel, Barbara Utermann, Martin Erdel, Christine Fauth, Gerd Utermann, Johannes Zschocke, Dieter Kotzot

Institute of Human Genetics

Research output: Contribution to journal › Case report › peer-review

3 Citations (Web of Science)

Original language	English
Pages (from-to)	2239-2244
Journal	AM J MED GENET PART A
Volume	158A
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.35450
Publication status	Published - 2012

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10.1002/ajmg.a.35450

Cite this

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title = "Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.",

author = "Anne Fr{\"u}hmesser and Edda Haberlandt and Werner Judmaier and Albert Schinzel and Barbara Utermann and Martin Erdel and Christine Fauth and Gerd Utermann and Johannes Zschocke and Dieter Kotzot",

year = "2012",

doi = "10.1002/ajmg.a.35450",

language = "English",

volume = "158A",

pages = "2239--2244",

journal = "AM J MED GENET PART A",

issn = "1552-4825",

number = "9",

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TY - JOUR

T1 - Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.

AU - Frühmesser, Anne

AU - Haberlandt, Edda

AU - Judmaier, Werner

AU - Schinzel, Albert

AU - Utermann, Barbara

AU - Erdel, Martin

AU - Fauth, Christine

AU - Utermann, Gerd

AU - Zschocke, Johannes

AU - Kotzot, Dieter

PY - 2012

Y1 - 2012

U2 - 10.1002/ajmg.a.35450

DO - 10.1002/ajmg.a.35450

M3 - Case report

C2 - 22821890

SN - 1552-4825

VL - 158A

SP - 2239

EP - 2244

JO - AM J MED GENET PART A

JF - AM J MED GENET PART A

IS - 9

ER -