Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

Kathleen M Gorman; Sally A Lynch; Adele Schneider; Dorothy K Grange; Kathleen A Williamson; David R FitzPatrick; Mary D King

doi:10.1002/ajmg.a.37849

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

Kathleen M Gorman, Sally A Lynch, Adele Schneider, Dorothy K Grange, Kathleen A Williamson, David R FitzPatrick, Mary D King

Research output: Contribution to journal › Letter › peer-review

Original language	English
Journal	The American Journal of Medical Genetics - Part A (AJMG)
Volume	170
Issue number	11
Early online date	17 Jul 2016
DOIs	https://doi.org/10.1002/ajmg.a.37849
Publication status	Published - Nov 2016

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10.1002/ajmg.a.37849

Status Dystonicus in Two cases of SOX2-Anophthalmia Syndrome with mutations resulting in p.Tyr160Accepted author manuscript, 487 KB

Cite this

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title = "Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations",

author = "Gorman, {Kathleen M} and Lynch, {Sally A} and Adele Schneider and Grange, {Dorothy K} and Williamson, {Kathleen A} and FitzPatrick, {David R} and King, {Mary D}",

year = "2016",

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language = "English",

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T1 - Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

AU - Gorman, Kathleen M

AU - Lynch, Sally A

AU - Schneider, Adele

AU - Grange, Dorothy K

AU - Williamson, Kathleen A

AU - FitzPatrick, David R

AU - King, Mary D

PY - 2016/11

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U2 - 10.1002/ajmg.a.37849

DO - 10.1002/ajmg.a.37849

M3 - Letter

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SN - 1552-4825

VL - 170

JO - The American Journal of Medical Genetics - Part A (AJMG)

JF - The American Journal of Medical Genetics - Part A (AJMG)

IS - 11

ER -