Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Katrina Tatton-Brown; Anne Murray; Sandra Hanks; Jenny Douglas; Ruth Armstrong; Siddharth Banka; Lynne M Bird; Carol L Clericuzio; Valerie Cormier-Daire; Tom Cushing; Frances Flinter; Marie-Line Jacquemont; Shelagh Joss; Esther Kinning; Sally Ann Lynch; Alex Magee; Vivienne McConnell; Ana Medeira; Keiichi Ozono; Michael Patton; Julia Rankin; Debbie Shears; Marleen Simon; Miranda Splitt; Volker Strenger; Kyra Stuurman; Clare Taylor; Hannah Titheradge; Lionel Van Maldergem; I Karen Temple; Trevor Cole; Sheila Seal; Nazneen Rahman

doi:10.1002/ajmg.a.36229

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M Bird, Carol L Clericuzio, Valerie Cormier-Daire, Tom Cushing, Frances Flinter, Marie-Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael PattonJulia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I Karen Temple, Trevor Cole, Sheila Seal, Nazneen Rahman

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

107 Citations (Web of Science)

Original language	English
Pages (from-to)	2972-2980
Journal	AM J MED GENET PART A
Volume	161A
Issue number	12
DOIs	https://doi.org/10.1002/ajmg.a.36229
Publication status	Published - 2013

Keywords

AUTOSOMAL-DOMINANT INHERITANCE
B-CELL LYMPHOMAS
CERVICAL-SPINE
OVERGROWTH
GIRL
NEUROBLASTOMA
METHYLATION
ANOMALIES
LYSINE-27

Access to Document

10.1002/ajmg.a.36229

Cite this

Tatton-Brown, K., Murray, A., Hanks, S., Douglas, J., Armstrong, R., Banka, S., Bird, L. M., Clericuzio, C. L., Cormier-Daire, V., Cushing, T., Flinter, F., Jacquemont, M.-L., Joss, S., Kinning, E., Lynch, S. A., Magee, A., McConnell, V., Medeira, A., Ozono, K., ... Rahman, N. (2013). Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. AM J MED GENET PART A, 161A(12), 2972-2980. https://doi.org/10.1002/ajmg.a.36229

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title = "Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.",

keywords = "AUTOSOMAL-DOMINANT INHERITANCE, B-CELL LYMPHOMAS, CERVICAL-SPINE, OVERGROWTH, GIRL, NEUROBLASTOMA, METHYLATION, ANOMALIES, LYSINE-27",

author = "Katrina Tatton-Brown and Anne Murray and Sandra Hanks and Jenny Douglas and Ruth Armstrong and Siddharth Banka and Bird, {Lynne M} and Clericuzio, {Carol L} and Valerie Cormier-Daire and Tom Cushing and Frances Flinter and Marie-Line Jacquemont and Shelagh Joss and Esther Kinning and Lynch, {Sally Ann} and Alex Magee and Vivienne McConnell and Ana Medeira and Keiichi Ozono and Michael Patton and Julia Rankin and Debbie Shears and Marleen Simon and Miranda Splitt and Volker Strenger and Kyra Stuurman and Clare Taylor and Hannah Titheradge and {Van Maldergem}, Lionel and Temple, {I Karen} and Trevor Cole and Sheila Seal and Nazneen Rahman",

year = "2013",

doi = "10.1002/ajmg.a.36229",

language = "English",

volume = "161A",

pages = "2972--2980",

journal = "AM J MED GENET PART A",

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Tatton-Brown, K, Murray, A, Hanks, S, Douglas, J, Armstrong, R, Banka, S, Bird, LM, Clericuzio, CL, Cormier-Daire, V, Cushing, T, Flinter, F, Jacquemont, M-L, Joss, S, Kinning, E, Lynch, SA, Magee, A, McConnell, V, Medeira, A, Ozono, K, Patton, M, Rankin, J, Shears, D, Simon, M, Splitt, M, Strenger, V, Stuurman, K, Taylor, C, Titheradge, H, Van Maldergem, L, Temple, IK, Cole, T, Seal, S & Rahman, N 2013, 'Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.', AM J MED GENET PART A, vol. 161A, no. 12, pp. 2972-2980. https://doi.org/10.1002/ajmg.a.36229

TY - JOUR

T1 - Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

AU - Tatton-Brown, Katrina

AU - Murray, Anne

AU - Hanks, Sandra

AU - Douglas, Jenny

AU - Armstrong, Ruth

AU - Banka, Siddharth

AU - Bird, Lynne M

AU - Clericuzio, Carol L

AU - Cormier-Daire, Valerie

AU - Cushing, Tom

AU - Flinter, Frances

AU - Jacquemont, Marie-Line

AU - Joss, Shelagh

AU - Kinning, Esther

AU - Lynch, Sally Ann

AU - Magee, Alex

AU - McConnell, Vivienne

AU - Medeira, Ana

AU - Ozono, Keiichi

AU - Patton, Michael

AU - Rankin, Julia

AU - Shears, Debbie

AU - Simon, Marleen

AU - Splitt, Miranda

AU - Strenger, Volker

AU - Stuurman, Kyra

AU - Taylor, Clare

AU - Titheradge, Hannah

AU - Van Maldergem, Lionel

AU - Temple, I Karen

AU - Cole, Trevor

AU - Seal, Sheila

AU - Rahman, Nazneen

PY - 2013

Y1 - 2013

KW - AUTOSOMAL-DOMINANT INHERITANCE

KW - B-CELL LYMPHOMAS

KW - CERVICAL-SPINE

KW - OVERGROWTH

KW - GIRL

KW - NEUROBLASTOMA

KW - METHYLATION

KW - ANOMALIES

KW - LYSINE-27

U2 - 10.1002/ajmg.a.36229

DO - 10.1002/ajmg.a.36229

M3 - Original Article

C2 - 24214728

SN - 1552-4825

VL - 161A

SP - 2972

EP - 2980

JO - AM J MED GENET PART A

JF - AM J MED GENET PART A

IS - 12

ER -