Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

H Vega; AH Trainer; M Gordillo; KOJ Simola

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

H Vega
, AH Trainer
, M Gordillo
, KOJ Simola

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

62 Citations (Scopus)

Original language	English
Pages (from-to)	30-37
Journal	Journal of Medical Genetics
Volume	47
Issue number	1
Publication status	Published - 2010
Publication type	A1 Journal article-refereed

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https://pubmed.ncbi.nlm.nih.gov/19752157

Cite this

@article{9b274567ad044c64b1e8d231a945f63a,

title = "Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome",

author = "H Vega and AH Trainer and M Gordillo and KOJ Simola",

year = "2010",

language = "English",

volume = "47",

pages = "30--37",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "1",

}

Vega, H, Trainer, AH, Gordillo, M & Simola, KOJ 2010, 'Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome', Journal of Medical Genetics, vol. 47, no. 1, pp. 30-37. <https://pubmed.ncbi.nlm.nih.gov/19752157>

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. / Vega, H; Trainer, AH; Gordillo, M et al.
In: Journal of Medical Genetics, Vol. 47, No. 1, 2010, p. 30-37.

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

TY - JOUR

T1 - Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

AU - Vega, H

AU - Trainer, AH

AU - Gordillo, M

AU - Simola, KOJ

PY - 2010

Y1 - 2010

M3 - Article

SN - 0022-2593

VL - 47

SP - 30

EP - 37

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 1

ER -