Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

Nicky S. J. Halbach; Eric E. J. Smeets; Noortje van den Braak; Kees E. P. van Roozendaal; Rien M. J. Blok; Constance T. R. M. Schrander-Stumpel; Jean-Pierre Frijns; Marian A. Maaskant; Leopold M. G. Curfs

doi:10.1002/ajmg.a.34418

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

Nicky S. J. Halbach, Eric E. J. Smeets^*, Noortje van den Braak, Kees E. P. van Roozendaal, Rien M. J. Blok, Constance T. R. M. Schrander-Stumpel, Jean-Pierre Frijns, Marian A. Maaskant, Leopold M. G. Curfs

^*Corresponding author for this work

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

19 Citations (Web of Science)

Original language	English
Pages (from-to)	340-350
Journal	American Journal of Medical Genetics Part A
Volume	158A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.34418
Publication status	Published - Feb 2012

Keywords

Rett syndrome
genotype
phenotype
ISS
intellectual disabilities

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10.1002/ajmg.a.34418

Cite this

Halbach, N. S. J., Smeets, E. E. J., van den Braak, N., van Roozendaal, K. E. P., Blok, R. M. J., Schrander-Stumpel, C. T. R. M., Frijns, J-P., Maaskant, M. A., & Curfs, L. M. G. (2012). Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. American Journal of Medical Genetics Part A, 158A(2), 340-350. https://doi.org/10.1002/ajmg.a.34418

Halbach, Nicky S. J. ; Smeets, Eric E. J. ; van den Braak, Noortje ; van Roozendaal, Kees E. P. ; Blok, Rien M. J. ; Schrander-Stumpel, Constance T. R. M. ; Frijns, Jean-Pierre ; Maaskant, Marian A. ; Curfs, Leopold M. G. / Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. In: American Journal of Medical Genetics Part A. 2012 ; Vol. 158A, No. 2. pp. 340-350.

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title = "Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice",

keywords = "Rett syndrome, genotype, phenotype, ISS, intellectual disabilities",

author = "Halbach, {Nicky S. J.} and Smeets, {Eric E. J.} and {van den Braak}, Noortje and {van Roozendaal}, {Kees E. P.} and Blok, {Rien M. J.} and Schrander-Stumpel, {Constance T. R. M.} and Jean-Pierre Frijns and Maaskant, {Marian A.} and Curfs, {Leopold M. G.}",

year = "2012",

month = feb,

doi = "10.1002/ajmg.a.34418",

language = "English",

volume = "158A",

pages = "340--350",

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

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publisher = "Wiley",

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Halbach, NSJ, Smeets, EEJ, van den Braak, N, van Roozendaal, KEP, Blok, RMJ, Schrander-Stumpel, CTRM, Frijns, J-P, Maaskant, MA & Curfs, LMG 2012, 'Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice', American Journal of Medical Genetics Part A, vol. 158A, no. 2, pp. 340-350. https://doi.org/10.1002/ajmg.a.34418

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. / Halbach, Nicky S. J.; Smeets, Eric E. J.; van den Braak, Noortje; van Roozendaal, Kees E. P.; Blok, Rien M. J.; Schrander-Stumpel, Constance T. R. M.; Frijns, Jean-Pierre; Maaskant, Marian A.; Curfs, Leopold M. G.

In: American Journal of Medical Genetics Part A, Vol. 158A, No. 2, 02.2012, p. 340-350.

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

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AU - Halbach, Nicky S. J.

AU - Smeets, Eric E. J.

AU - van den Braak, Noortje

AU - van Roozendaal, Kees E. P.

AU - Blok, Rien M. J.

AU - Schrander-Stumpel, Constance T. R. M.

AU - Frijns, Jean-Pierre

AU - Maaskant, Marian A.

AU - Curfs, Leopold M. G.

PY - 2012/2

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KW - Rett syndrome

KW - genotype

KW - phenotype

KW - ISS

KW - intellectual disabilities

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DO - 10.1002/ajmg.a.34418

M3 - Article

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VL - 158A

SP - 340

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JO - American Journal of Medical Genetics Part A

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SN - 1552-4825

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