A 20.5-MB germline deletion of 13q13.1→q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation

Chih Ping Chen; L. Y. Kao; Y. N. Su; M. Chen; S. D. Chang; W. Wang

A 20.5-MB germline deletion of 13q13.1→q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation

Chih Ping Chen^*, L. Y. Kao, Y. N. Su, M. Chen, S. D. Chang, W. Wang

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醫學系

研究成果: 期刊稿件 › 快報 › 同行評審

1 引文斯高帕斯（Scopus）

原文	英語
頁（從 - 到）	431-434
頁數	4
期刊	Genetic Counseling
卷	22
發行號	4
出版狀態	已出版 - 2011

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引用此

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title = "A 20.5-MB germline deletion of 13q13.1→q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation",

author = "Chen, {Chih Ping} and Kao, {L. Y.} and Su, {Y. N.} and M. Chen and Chang, {S. D.} and W. Wang",

year = "2011",

language = "英语",

volume = "22",

pages = "431--434",

journal = "Genetic Counseling",

issn = "1015-8146",

publisher = "Editions Medecine et Hygiene",

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TY - JOUR

T1 - A 20.5-MB germline deletion of 13q13.1→q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation

AU - Chen, Chih Ping

AU - Kao, L. Y.

AU - Su, Y. N.

AU - Chen, M.

AU - Chang, S. D.

AU - Wang, W.

PY - 2011

Y1 - 2011

UR - http://www.scopus.com/inward/record.url?scp=84862965741&partnerID=8YFLogxK

M3 - 快报

C2 - 22303805

AN - SCOPUS:84862965741

SN - 1015-8146

VL - 22

SP - 431

EP - 434

JO - Genetic Counseling

JF - Genetic Counseling

IS - 4

ER -