24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism

C. P. Chen; T. H. Wang; S. P. Lin; S. R. Chern; M. R. Chen; C. C. Lee; Y. J. Chen; W. Wang

doi:10.1016/j.ejmg.2006.04.002

24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism

C. P. Chen^*, T. H. Wang, S. P. Lin, S. R. Chern, M. R. Chen, C. C. Lee, Y. J. Chen, W. Wang

^*Corresponding author for this work

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

5 Scopus citations

Abstract

24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.

Original language	English
Pages (from-to)	516-519
Number of pages	4
Journal	European Journal of Medical Genetics
Volume	49
Issue number	6
DOIs	https://doi.org/10.1016/j.ejmg.2006.04.002
State	Published - 11 2006
Externally published	Yes

Keywords

Array CGH
CTGF
Congenital heart defects
FABP7
HSF2
Interstitial 6q deletion
Microcephaly
Unbalanced reciprocal translocation

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10.1016/j.ejmg.2006.04.002

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@article{b907d03ec2004aa5977d0bab1ce5e2de,

title = "24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism",

abstract = "24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.",

keywords = "Array CGH, CTGF, Congenital heart defects, FABP7, HSF2, Interstitial 6q deletion, Microcephaly, Unbalanced reciprocal translocation",

author = "Chen, {C. P.} and Wang, {T. H.} and Lin, {S. P.} and Chern, {S. R.} and Chen, {M. R.} and Lee, {C. C.} and Chen, {Y. J.} and W. Wang",

year = "2006",

month = nov,

doi = "10.1016/j.ejmg.2006.04.002",

language = "英语",

volume = "49",

pages = "516--519",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson s.r.l.",

number = "6",

}

TY - JOUR

T1 - 24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism

AU - Chen, C. P.

AU - Wang, T. H.

AU - Lin, S. P.

AU - Chern, S. R.

AU - Chen, M. R.

AU - Lee, C. C.

AU - Chen, Y. J.

AU - Wang, W.

PY - 2006/11

Y1 - 2006/11

N2 - 24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.

AB - 24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.

KW - Array CGH

KW - CTGF

KW - Congenital heart defects

KW - FABP7

KW - HSF2

KW - Interstitial 6q deletion

KW - Microcephaly

KW - Unbalanced reciprocal translocation

UR - http://www.scopus.com/inward/record.url?scp=33845926854&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2006.04.002

DO - 10.1016/j.ejmg.2006.04.002

M3 - 文章

C2 - 16769261

AN - SCOPUS:33845926854

SN - 1769-7212

VL - 49

SP - 516

EP - 519

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 6

ER -

24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism

Abstract

Keywords

Access to Document

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