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

6 Scopus citations

Original language	English
Pages (from-to)	3048-3050
Number of pages	3
Journal	American Journal of Medical Genetics, Part A
Volume	170
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.37849
State	Published - Nov 1 2016

Keywords

SOX2-Anophthalmia s
status dystonicus
yndrome

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10.1002/ajmg.a.37849

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

keywords = "SOX2-Anophthalmia s, status dystonicus, yndrome",

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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doi = "10.1002/ajmg.a.37849",

language = "English",

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pages = "3048--3050",

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

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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 - 2016/11/1

Y1 - 2016/11/1

KW - SOX2-Anophthalmia s

KW - status dystonicus

KW - yndrome

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U2 - 10.1002/ajmg.a.37849

DO - 10.1002/ajmg.a.37849

M3 - Letter

C2 - 27427475

AN - SCOPUS:84991501357

SN - 1552-4825

VL - 170

SP - 3048

EP - 3050

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -

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

Keywords

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