Clinical utility gene card for: Meckel syndrome - update 2016.

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The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.

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Clinical utility gene card for: Meckel syndrome - update 2016.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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Clinical utility gene card for: Meckel syndrome - update 2016.

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Clinical utility gene card for: Meckel syndrome - update 2016.

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Clinical utility gene card for: Meckel syndrome - update 2016.

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Clinical utility gene card for: Meckel syndrome - update 2016.

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Carsten Bergmann

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Riitta Salonen

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Valeska Frank

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The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

The Meckel syndrome: clinicopathological findings in 67 patients

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Current insights into renal ciliopathies: what can genetics teach us?

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

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ejhg.2016.33

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scholarly article

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10.1038/EJHG.2016.33

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1051336564

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27094752

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4970697

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Clinical utility gene card for: Meckel syndrome - update 2016.

about

P2860

P2860

Clinical utility gene card for: Meckel syndrome - update 2016.

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