Leukoencephalopathy, cerebral calcifications and cysts: a family study.

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Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature Brain Calcification and Movement Disorders.Leukoencephalopathy with cerebral calcifications and cysts: clinical and pathological features in two adults.

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Leukoencephalopathy, cerebral calcifications and cysts: a family study.

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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name

Leukoencephalopathy, cerebral calcifications and cysts: a family study.

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Leukoencephalopathy, cerebral calcifications and cysts: a family study.

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type

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Leukoencephalopathy, cerebral calcifications and cysts: a family study.

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Leukoencephalopathy, cerebral calcifications and cysts: a family study.

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Leukoencephalopathy, cerebral calcifications and cysts: a family study.

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Leukoencephalopathy, cerebral calcifications and cysts: a family study.

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P1476

Leukoencephalopathy, cerebral calcifications and cysts: a family study.

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P2093

Andrea Kelemen

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Anita Kamondi

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Anna Szűcs

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Anne Polvi

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Dávid László Tárnoki

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Eszter Turányi

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Kinga Karlinger

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László Szegedi

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Ádám Domonkos Tárnoki

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Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria

Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs

Leukoencephalopathy, cerebral calcifications, and cysts: new observations.

A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Cerebroretinal microangiopathy with calcifications and cysts.

Aicardi-Goutieres syndrome.

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Anna-Elina Lehesjoki

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Leukoencephalopathy, cerebral calcifications and cysts: a family study.

about

P2860

P2860

Leukoencephalopathy, cerebral calcifications and cysts: a family study.

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