A splice-site variant in ANKRD11 associated with classical KBG syndrome

Karen J. Low; Alison Hills; Maggie Williams; Celia Duff-Farrier; Shane McKee; Sarah F. Smithson

doi:10.1002/ajmg.a.38397

A splice-site variant in ANKRD11 associated with classical KBG syndrome

Karen J. Low^*
, Alison Hills
, Maggie Williams
, Celia Duff-Farrier
, Shane McKee
, Sarah F. Smithson

^*Corresponding author for this work

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

5 Citations (Scopus)

Original language	English
Pages (from-to)	2844-2846
Number of pages	3
Journal	American Journal of Medical Genetics Part A
Volume	173
Issue number	10
DOIs	https://doi.org/10.1002/ajmg.a.38397
Publication status	Published - Oct 2017

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@article{ca5183da85f54f1889ae415ff4047645,

title = "A splice-site variant in ANKRD11 associated with classical KBG syndrome",

author = "Low, \{Karen J.\} and Alison Hills and Maggie Williams and Celia Duff-Farrier and Shane McKee and Smithson, \{Sarah F.\}",

year = "2017",

month = oct,

doi = "10.1002/ajmg.a.38397",

language = "English",

volume = "173",

pages = "2844--2846",

journal = "American Journal of Medical Genetics Part A",

issn = "1096-8628",

publisher = "Wiley-Liss Inc.",

number = "10",

}

TY - JOUR

T1 - A splice-site variant in ANKRD11 associated with classical KBG syndrome

AU - Low, Karen J.

AU - Hills, Alison

AU - Williams, Maggie

AU - Duff-Farrier, Celia

AU - McKee, Shane

AU - Smithson, Sarah F.

PY - 2017/10

Y1 - 2017/10

UR - https://www.scopus.com/pages/publications/85029575720

U2 - 10.1002/ajmg.a.38397

DO - 10.1002/ajmg.a.38397

M3 - Article (Academic Journal)

C2 - 28815928

AN - SCOPUS:85029575720

SN - 1096-8628

SN - 1552-4833

VL - 173

SP - 2844

EP - 2846

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 10

ER -

A splice-site variant in ANKRD11 associated with classical KBG syndrome

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