SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

EM Botzenhart; R Chafai; G Pierquin; RC Michaelis; ML Whiteford; KO Simola; B Rösler; J Kohlhase; A Green; H Ilyina; R König; RB Lowry; IF Lo; M Shohat; L Burke; J Mcgaughran

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

EM Botzenhart
, R Chafai
, G Pierquin
, RC Michaelis
, ML Whiteford
, KO Simola
, B Rösler
, J Kohlhase
, A Green
, H Ilyina
, R König
, RB Lowry
, IF Lo
, M Shohat
, L Burke
, J Mcgaughran

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

64 Citations (Scopus)

Original language	English
Pages (from-to)	282
Journal	HUMAN MUTATION
Volume	26
Issue number	3
Publication status	Published - 2005
Publication type	A1 Journal article-refereed

Access to Document

https://pubmed.ncbi.nlm.nih.gov/16088922

Cite this

Botzenhart, EM., Chafai, R., Pierquin, G., Michaelis, RC., Whiteford, ML., Simola, KO., Rösler, B., Kohlhase, J., Green, A., Ilyina, H., König, R., Lowry, RB., Lo, IF., Shohat, M., Burke, L., & Mcgaughran, J. (2005). SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. HUMAN MUTATION, 26(3), 282. https://pubmed.ncbi.nlm.nih.gov/16088922

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title = "SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype",

author = "EM Botzenhart and R Chafai and G Pierquin and RC Michaelis and ML Whiteford and KO Simola and B R{\"o}sler and J Kohlhase and A Green and H Ilyina and R K{\"o}nig and RB Lowry and IF Lo and M Shohat and L Burke and J Mcgaughran",

year = "2005",

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volume = "26",

pages = "282",

journal = "HUMAN MUTATION",

issn = "1059-7794",

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Botzenhart, EM, Chafai, R, Pierquin, G, Michaelis, RC, Whiteford, ML, Simola, KO, Rösler, B, Kohlhase, J, Green, A, Ilyina, H, König, R, Lowry, RB, Lo, IF, Shohat, M, Burke, L & Mcgaughran, J 2005, 'SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype', HUMAN MUTATION, vol. 26, no. 3, pp. 282. <https://pubmed.ncbi.nlm.nih.gov/16088922>

TY - JOUR

T1 - SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

AU - Botzenhart, EM

AU - Chafai, R

AU - Pierquin, G

AU - Michaelis, RC

AU - Whiteford, ML

AU - Simola, KO

AU - Rösler, B

AU - Kohlhase, J

AU - Green, A

AU - Ilyina, H

AU - König, R

AU - Lowry, RB

AU - Lo, IF

AU - Shohat, M

AU - Burke, L

AU - Mcgaughran, J

PY - 2005

Y1 - 2005

M3 - Article

SN - 1059-7794

VL - 26

SP - 282

JO - HUMAN MUTATION

JF - HUMAN MUTATION

IS - 3

ER -