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

^*Corresponding author for this work

School of Medicine

Research output: Contribution to journal › Journal Letter › peer-review

1 Scopus citations

Original language	English
Pages (from-to)	431-434
Number of pages	4
Journal	Genetic Counseling
Volume	22
Issue number	4
State	Published - 2011

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Cite this

@article{e99e77a12eb7459f94fe3d950f878c43,

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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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 - https://www.scopus.com/pages/publications/84862965741

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 -

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

UN SDGs

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