Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

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Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

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2017年の論文

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name

Ellis-van Creveld syndrome and ...... n the EVC/EVC2 and TMC1 genes.

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Ellis-van Creveld syndrome and ...... n the EVC/EVC2 and TMC1 genes.

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type

Item

label

Ellis-van Creveld syndrome and ...... n the EVC/EVC2 and TMC1 genes.

@en

Ellis-van Creveld syndrome and ...... n the EVC/EVC2 and TMC1 genes.

@nl

prefLabel

Ellis-van Creveld syndrome and ...... n the EVC/EVC2 and TMC1 genes.

@en

Ellis-van Creveld syndrome and ...... n the EVC/EVC2 and TMC1 genes.

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P1476

Ellis-van Creveld syndrome and ...... n the EVC/EVC2 and TMC1 genes.

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Abid Jan

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Afzal Rafique

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Asmat Ullah

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Bader Alhaddad

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Farooq Ahmad

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Heide Seidel

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Ishtiaq Ahmed

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Muhammad Umair

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Thomas Meitinger

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Tim M Strom

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P2860

Ellis-van Creveld syndrome

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.

A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

P2888

s12041-017-0868-6

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1005-1014

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scholarly article

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10.1007/S12041-017-0868-6

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P433

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P478

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2017-12-01T00:00:00Z

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29321360

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