A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma

Remko Hersmus; HCGM (Bertie) de Leeuw; Hans Stoop; P Bernard; Lena van Doorn; Hennie Brüggenwirth; Sten Drop; Wolter Oosterhuis; VR Harley; LHJ (Leendert) Looijenga

doi:10.1038/ejhg.2009.96

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma

Remko Hersmus, HCGM (Bertie) de Leeuw, Hans Stoop, P Bernard, Lena van Doorn, Hennie Brüggenwirth, Sten Drop, Wolter Oosterhuis, VR Harley, LHJ (Leendert) Looijenga

Research output: Contribution to journal › Article › Academic › peer-review

32 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1642-1649
Number of pages	8
Journal	European Journal of Human Genetics
Volume	17
DOIs	https://doi.org/10.1038/ejhg.2009.96
Publication status	Published - 2009

Access to Document

10.1038/ejhg.2009.96

http://hdl.handle.net/1765/24551

Cite this

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title = "A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma",

author = "Remko Hersmus and {de Leeuw}, {HCGM (Bertie)} and Hans Stoop and P Bernard and {van Doorn}, Lena and Hennie Br{\"u}ggenwirth and Sten Drop and Wolter Oosterhuis and VR Harley and Looijenga, {LHJ (Leendert)}",

year = "2009",

doi = "10.1038/ejhg.2009.96",

language = "Undefined/Unknown",

volume = "17",

pages = "1642--1649",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma

AU - Hersmus, Remko

AU - de Leeuw, HCGM (Bertie)

AU - Stoop, Hans

AU - Bernard, P

AU - van Doorn, Lena

AU - Brüggenwirth, Hennie

AU - Drop, Sten

AU - Oosterhuis, Wolter

AU - Harley, VR

AU - Looijenga, LHJ (Leendert)

PY - 2009

Y1 - 2009

U2 - 10.1038/ejhg.2009.96

DO - 10.1038/ejhg.2009.96

M3 - Article

SN - 1018-4813

VL - 17

SP - 1642

EP - 1649

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -