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

9 Citations (Web of Science)

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

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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.

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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",

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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 -