Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype

Piers Blombery; Georgina L. Ryland; Lucy C. Fox; Zornitza Stark; Meg Wall; Anna Jarmolowicz; Ain Roesley; Ella R. Thompson; Sean M. Grimmond; Shyam Panicker; Fiona Kwok

doi:10.1111/bjh.18178

Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype

Piers Blombery
, Georgina L. Ryland
, Lucy C. Fox
, Zornitza Stark
, Meg Wall
, Anna Jarmolowicz
, Ain Roesley
, Ella R. Thompson
, Sean M. Grimmond
, Shyam Panicker
, Fiona Kwok

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

Original language	English
Pages (from-to)	196-199
Number of pages	4
Journal	British Journal of Haematology
Volume	198
Issue number	1
DOIs	https://doi.org/10.1111/bjh.18178
Publication status	Published - Jul 2022
Externally published	Yes

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10.1111/bjh.18178

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Blombery, P., Ryland, G. L., Fox, L. C., Stark, Z., Wall, M., Jarmolowicz, A., Roesley, A., Thompson, E. R., Grimmond, S. M., Panicker, S., & Kwok, F. (2022). Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype. British Journal of Haematology, 198(1), 196-199. https://doi.org/10.1111/bjh.18178

@article{6e2c56452b5a465ead1f4dc61c77a3e2,

title = "Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype",

author = "Piers Blombery and Ryland, \{Georgina L.\} and Fox, \{Lucy C.\} and Zornitza Stark and Meg Wall and Anna Jarmolowicz and Ain Roesley and Thompson, \{Ella R.\} and Grimmond, \{Sean M.\} and Shyam Panicker and Fiona Kwok",

year = "2022",

month = jul,

doi = "10.1111/bjh.18178",

language = "English",

volume = "198",

pages = "196--199",

journal = "British Journal of Haematology",

issn = "0007-1048",

publisher = "Wiley-Blackwell",

number = "1",

}

Blombery, P, Ryland, GL, Fox, LC, Stark, Z, Wall, M, Jarmolowicz, A, Roesley, A, Thompson, ER, Grimmond, SM, Panicker, S & Kwok, F 2022, 'Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype', British Journal of Haematology, vol. 198, no. 1, pp. 196-199. https://doi.org/10.1111/bjh.18178

Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype. / Blombery, Piers; Ryland, Georgina L.; Fox, Lucy C. et al.
In: British Journal of Haematology, Vol. 198, No. 1, 07.2022, p. 196-199.

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

TY - JOUR

T1 - Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4

T2 - Expansion of an emerging phenotype

AU - Blombery, Piers

AU - Ryland, Georgina L.

AU - Fox, Lucy C.

AU - Stark, Zornitza

AU - Wall, Meg

AU - Jarmolowicz, Anna

AU - Roesley, Ain

AU - Thompson, Ella R.

AU - Grimmond, Sean M.

AU - Panicker, Shyam

AU - Kwok, Fiona

PY - 2022/7

Y1 - 2022/7

UR - https://www.scopus.com/pages/publications/85127440615

U2 - 10.1111/bjh.18178

DO - 10.1111/bjh.18178

M3 - Letter

C2 - 35381620

AN - SCOPUS:85127440615

SN - 0007-1048

VL - 198

SP - 196

EP - 199

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 1

ER -

Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype

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