Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing

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Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing. / Naumova, Oxana Yu. ; Rychkov, Sergey Y. ; Burenkova, Olga V. ; Solodunova, Maria Yu. ; Polyanskaya, Irina V.; Arintcina, Irina A. ; Zhukova, Marina A. ; Ovchinnikova , Irina V. ; Zhukova, Olga V.; Grigorenko, Elena L. .

In: Clinical Case Reports, Vol. 8, No. 12, 12.2020, p. 2889-2894.

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

BibTeX

@article{6f84961f0fca4f62808a270fc77bb5be,

title = "Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing",

abstract = "The study shows that whole‐exome sequencing is a promising approach to detect novel variants—and gene candidates in DSD, that, as a future direction, may improve the diagnostic gene panels for this heterogeneous disorder.",

keywords = "46, XY disorder of sexual development, androgen insensitivity syndrome, disease‐related variant, whole‐exome sequencing, disease-related variant, whole-exome sequencing, MUTATIONS, 46,XY disorder of sexual development",

author = "Naumova, {Oxana Yu.} and Rychkov, {Sergey Y.} and Burenkova, {Olga V.} and Solodunova, {Maria Yu.} and Polyanskaya, {Irina V.} and Arintcina, {Irina A.} and Zhukova, {Marina A.} and Ovchinnikova, {Irina V.} and Zhukova, {Olga V.} and Grigorenko, {Elena L.}",

note = "Publisher Copyright: {\textcopyright} 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd",

year = "2020",

month = dec,

doi = "10.1002/ccr3.3286",

language = "English",

volume = "8",

pages = "2889--2894",

journal = "Clinical Case Reports",

issn = "2059-0393",

publisher = "Wiley-Blackwell",

number = "12",

}

RIS

TY - JOUR

T1 - Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing

AU - Naumova, Oxana Yu.

AU - Rychkov, Sergey Y.

AU - Burenkova, Olga V.

AU - Solodunova, Maria Yu.

AU - Polyanskaya, Irina V.

AU - Arintcina, Irina A.

AU - Zhukova, Marina A.

AU - Ovchinnikova , Irina V.

AU - Zhukova, Olga V.

AU - Grigorenko, Elena L.

PY - 2020/12

Y1 - 2020/12

N2 - The study shows that whole‐exome sequencing is a promising approach to detect novel variants—and gene candidates in DSD, that, as a future direction, may improve the diagnostic gene panels for this heterogeneous disorder.

AB - The study shows that whole‐exome sequencing is a promising approach to detect novel variants—and gene candidates in DSD, that, as a future direction, may improve the diagnostic gene panels for this heterogeneous disorder.

KW - 46, XY disorder of sexual development

KW - androgen insensitivity syndrome

KW - disease‐related variant

KW - whole‐exome sequencing

KW - disease-related variant

KW - whole-exome sequencing

KW - MUTATIONS

KW - 46,XY disorder of sexual development

UR - https://onlinelibrary.wiley.com/doi/full/10.1002/ccr3.3286

UR - http://www.scopus.com/inward/record.url?scp=85090768415&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/6c8a838e-df4c-3a7e-912a-91912be584d2/

U2 - 10.1002/ccr3.3286

DO - 10.1002/ccr3.3286

M3 - Article

C2 - 33363845

VL - 8

SP - 2889

EP - 2894

JO - Clinical Case Reports

JF - Clinical Case Reports

SN - 2059-0393

IS - 12

ER -

ID: 62398352