Missense variants in in a patient with Joubert syndrome

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Missense variants in in a patient with Joubert syndrome

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наукова стаття, опублікована в листопаді 2018

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Missense variants in in a patient with Joubert syndrome

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Missense variants in in a patient with Joubert syndrome

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Missense variants in in a patient with Joubert syndrome

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Missense variants in in a patient with Joubert syndrome

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Missense variants in in a patient with Joubert syndrome

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Missense variants in in a patient with Joubert syndrome

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P1476

Missense variants in in a patient with Joubert syndrome

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P2093

Julie M Huynh

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Maureen Galindo

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P2860

Joubert Syndrome and related disorders

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

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

A general framework for estimating the relative pathogenicity of human genetic variants

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

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

Joubert syndrome: a review.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

P304

2189-2192

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P31

scholarly article

case report

P356

10.1002/CCR3.1748

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P407

English

P433

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P478

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Christina M Laukaitis

P577

2018-11-01T00:00:00Z

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30455918

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6230611

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