Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome includingMECP2

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.36373 ◽

2014 ◽

Vol 164 (4) ◽

pp. 924-933 ◽

Author(s):

Daisuke Fukushi ◽

Kenichiro Yamada ◽

Noriko Nomura ◽

Misako Naiki ◽

Reiko Kimura ◽

...

Keyword(s):

Japanese Family ◽

Xq28 Duplication ◽

Duplication Syndrome

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Decision letter for "Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome"

10.1111/cge.13521/v3/decision1 ◽

2019 ◽

Keyword(s):

Phenotypic Effect ◽

Xq28 Duplication ◽

Duplication Syndrome

Download Full-text

Review for "Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome"

10.1111/cge.13521/v1/review2 ◽

2019 ◽

Author(s):

Julien Thevenon

Keyword(s):

Phenotypic Effect ◽

Xq28 Duplication ◽

Duplication Syndrome

Download Full-text

Author response for "Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome"

10.1111/cge.13521/v2/response1 ◽

2019 ◽

Author(s):

S.U. Peters ◽

C. Fu ◽

B. Suter ◽

E. Marsh ◽

T.A. Benke ◽

...

Keyword(s):

Author Response ◽

Phenotypic Effect ◽

Xq28 Duplication ◽

Duplication Syndrome

Download Full-text

Decision letter for "Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome"

10.1111/cge.13521/v1/decision1 ◽

2019 ◽

Keyword(s):

Phenotypic Effect ◽

Xq28 Duplication ◽

Duplication Syndrome

Download Full-text

Decision letter for "Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome"

10.1111/cge.13521/v4/decision1 ◽

2019 ◽

Keyword(s):

Phenotypic Effect ◽

Xq28 Duplication ◽

Duplication Syndrome

Download Full-text

Review for "Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome"

10.1111/cge.13521/v3/review1 ◽

2019 ◽

Author(s):

Julien Thevenon

Keyword(s):

Phenotypic Effect ◽

Xq28 Duplication ◽

Duplication Syndrome

Download Full-text

Author response for "Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome"

10.1111/cge.13521/v3/response1 ◽

2019 ◽

Author(s):

S.U. Peters ◽

C. Fu ◽

B. Suter ◽

E. Marsh ◽

T.A. Benke ◽

...

Keyword(s):

Author Response ◽

Phenotypic Effect ◽

Xq28 Duplication ◽

Duplication Syndrome

Download Full-text

Review for "Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome"

10.1111/cge.13521/v2/review1 ◽

2019 ◽

Author(s):

Julien Thevenon

Keyword(s):

Phenotypic Effect ◽

Xq28 Duplication ◽

Duplication Syndrome

Download Full-text

Decision letter for "Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome"

10.1111/cge.13521/v2/decision1 ◽

2019 ◽

Keyword(s):

Phenotypic Effect ◽

Xq28 Duplication ◽

Duplication Syndrome

Download Full-text

Review for "Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome"

10.1111/cge.13521/v1/review1 ◽

2018 ◽

Keyword(s):

Phenotypic Effect ◽

Xq28 Duplication ◽

Duplication Syndrome

Download Full-text