TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex

Laura S. Farach; William T. Gibson; Steven P. Sparagana; Mark Nellist; Connie T. R. M. Stumpel; Marja Hietala; Elliott Friedman; Deborah A. Pearson; Susan P. Creighton; Annemiek Wagemans; Reveel Segel; Efrat Ben-Shalom; Kit Sing Au; Hope Northrup

doi:10.1002/ajmg.a.38083

TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex

Laura S. Farach^*, William T. Gibson, Steven P. Sparagana, Mark Nellist, Connie T. R. M. Stumpel, Marja Hietala, Elliott Friedman, Deborah A. Pearson, Susan P. Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northrup

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	771-775
Number of pages	5
Journal	American Journal of Medical Genetics Part A
Volume	173
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.38083
Publication status	Published - Mar 2017

Keywords

tuberous sclerosis complex
genotype-phenotype association
rhabdomyoma
genetic counseling
TSC2
MUTATIONAL ANALYSIS
PHENOTYPE
GENOTYPE
SEVERITY
GENES

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10.1002/ajmg.a.38083

Cite this

Farach, L. S., Gibson, W. T., Sparagana, S. P., Nellist, M., Stumpel, C. T. R. M., Hietala, M., Friedman, E., Pearson, D. A., Creighton, S. P., Wagemans, A., Segel, R., Ben-Shalom, E., Au, K. S., & Northrup, H. (2017). TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex. American Journal of Medical Genetics Part A, 173(3), 771-775. https://doi.org/10.1002/ajmg.a.38083

Farach, Laura S. ; Gibson, William T. ; Sparagana, Steven P. ; Nellist, Mark ; Stumpel, Connie T. R. M. ; Hietala, Marja ; Friedman, Elliott ; Pearson, Deborah A. ; Creighton, Susan P. ; Wagemans, Annemiek ; Segel, Reveel ; Ben-Shalom, Efrat ; Au, Kit Sing ; Northrup, Hope. / TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex. In: American Journal of Medical Genetics Part A. 2017 ; Vol. 173, No. 3. pp. 771-775.

@article{9a77ebcf16854c66a2676d9e14e2e63e,

title = "TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex",

keywords = "tuberous sclerosis complex, genotype-phenotype association, rhabdomyoma, genetic counseling, TSC2, MUTATIONAL ANALYSIS, PHENOTYPE, GENOTYPE, SEVERITY, GENES",

author = "Farach, {Laura S.} and Gibson, {William T.} and Sparagana, {Steven P.} and Mark Nellist and Stumpel, {Connie T. R. M.} and Marja Hietala and Elliott Friedman and Pearson, {Deborah A.} and Creighton, {Susan P.} and Annemiek Wagemans and Reveel Segel and Efrat Ben-Shalom and Au, {Kit Sing} and Hope Northrup",

year = "2017",

month = mar,

doi = "10.1002/ajmg.a.38083",

language = "English",

volume = "173",

pages = "771--775",

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

issn = "1552-4825",

publisher = "Wiley",

number = "3",

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Farach, LS, Gibson, WT, Sparagana, SP, Nellist, M, Stumpel, CTRM, Hietala, M, Friedman, E, Pearson, DA, Creighton, SP, Wagemans, A, Segel, R, Ben-Shalom, E, Au, KS & Northrup, H 2017, 'TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex', American Journal of Medical Genetics Part A, vol. 173, no. 3, pp. 771-775. https://doi.org/10.1002/ajmg.a.38083

TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex. / Farach, Laura S.; Gibson, William T.; Sparagana, Steven P.; Nellist, Mark; Stumpel, Connie T. R. M.; Hietala, Marja; Friedman, Elliott; Pearson, Deborah A.; Creighton, Susan P.; Wagemans, Annemiek; Segel, Reveel; Ben-Shalom, Efrat; Au, Kit Sing; Northrup, Hope.

In: American Journal of Medical Genetics Part A, Vol. 173, No. 3, 03.2017, p. 771-775.

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

TY - JOUR

T1 - TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex

AU - Farach, Laura S.

AU - Gibson, William T.

AU - Sparagana, Steven P.

AU - Nellist, Mark

AU - Stumpel, Connie T. R. M.

AU - Hietala, Marja

AU - Friedman, Elliott

AU - Pearson, Deborah A.

AU - Creighton, Susan P.

AU - Wagemans, Annemiek

AU - Segel, Reveel

AU - Ben-Shalom, Efrat

AU - Au, Kit Sing

AU - Northrup, Hope

PY - 2017/3

Y1 - 2017/3

KW - tuberous sclerosis complex

KW - genotype-phenotype association

KW - rhabdomyoma

KW - genetic counseling

KW - TSC2

KW - MUTATIONAL ANALYSIS

KW - PHENOTYPE

KW - GENOTYPE

KW - SEVERITY

KW - GENES

U2 - 10.1002/ajmg.a.38083

DO - 10.1002/ajmg.a.38083

M3 - Article

C2 - 28211972

VL - 173

SP - 771

EP - 775

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

SN - 1552-4825

IS - 3

ER -