Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Ana Spreiz; Doris Müller; Sibylle Zotter; Ursula Albrecht; Matthias Baumann; Christine Fauth; Martin Erdel; Johannes Zschocke; Gerd Utermann; Dieter Kotzot

doi:10.1002/ajmg.a.33699

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Ana Spreiz, Doris Müller, Sibylle Zotter, Ursula Albrecht, Matthias Baumann, Christine Fauth, Martin Erdel, Johannes Zschocke, Gerd Utermann, Dieter Kotzot

Universitätsinstitut für Humangenetik

Publikation: Beitrag in Fachzeitschrift › Fallbericht › Begutachtung

20 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	2762-2767
Fachzeitschrift	AM J MED GENET PART A
Jahrgang	152A
Ausgabenummer	11
DOIs	https://doi.org/10.1002/ajmg.a.33699
Publikationsstatus	Veröffentlicht - 2010

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10.1002/ajmg.a.33699

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@article{b546755193564209849f20d335832f0f,

title = "Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).",

author = "Ana Spreiz and Doris M{\"u}ller and Sibylle Zotter and Ursula Albrecht and Matthias Baumann and Christine Fauth and Martin Erdel and Johannes Zschocke and Gerd Utermann and Dieter Kotzot",

year = "2010",

doi = "10.1002/ajmg.a.33699",

language = "English",

volume = "152A",

pages = "2762--2767",

journal = "AM J MED GENET PART A",

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}

TY - JOUR

T1 - Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

AU - Spreiz, Ana

AU - Müller, Doris

AU - Zotter, Sibylle

AU - Albrecht, Ursula

AU - Baumann, Matthias

AU - Fauth, Christine

AU - Erdel, Martin

AU - Zschocke, Johannes

AU - Utermann, Gerd

AU - Kotzot, Dieter

PY - 2010

Y1 - 2010

U2 - 10.1002/ajmg.a.33699

DO - 10.1002/ajmg.a.33699

M3 - Case report

C2 - 20954245

SN - 1552-4825

VL - 152A

SP - 2762

EP - 2767

JO - AM J MED GENET PART A

JF - AM J MED GENET PART A

IS - 11

ER -