(Q56266593)

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Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

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Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum (English)

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5

Peter Nürnberg

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Bernd Wollnik

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7

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Bernd Wollnik

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Janine Altmüller

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3

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Janine Altmüller

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Holger Thiele

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4

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Holger Thiele

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Shahida Moosa

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1

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Maria Gabriela Obregon

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2

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Virginia Fano

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6

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language of work or name

English

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publication date

May 2016

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published in

American Journal of Medical Genetics

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volume

170A

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issue

5

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page(s)

1295-301

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Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

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https://api.crossref.org/works/10.1002%2FAJMG.A.37570

retrieved

21 January 2018

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

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Crossref

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https://api.crossref.org/works/10.1002%2FAJMG.A.37570

retrieved

21 January 2018

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

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Crossref

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https://api.crossref.org/works/10.1002%2FAJMG.A.37570

retrieved

21 January 2018

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.37570

retrieved

21 January 2018

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.37570

retrieved

21 January 2018

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DOI

10.1002/AJMG.A.37570

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PubMed publication ID

26792575

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(Q56266593)

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

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