Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.

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Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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Knobloch syndrome caused by ho ...... A1 gene in a Chinese pedigree.

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Knobloch syndrome caused by ho ...... A1 gene in a Chinese pedigree.

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Knobloch syndrome caused by ho ...... A1 gene in a Chinese pedigree.

@en

Knobloch syndrome caused by ho ...... A1 gene in a Chinese pedigree.

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Knobloch syndrome caused by ho ...... A1 gene in a Chinese pedigree.

@en

Knobloch syndrome caused by ho ...... A1 gene in a Chinese pedigree.

@nl

P1476

Knobloch syndrome caused by ho ...... A1 gene in a Chinese pedigree.

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Chun Ding

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Hai-Bo Li

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Jun Zeng

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Lu-Si Zhang

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Yan Yang

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P2860

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

Novel roles for collagens in wiring the vertebrate nervous system.

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations

The multiple functions of collagen XVIII in development and disease.

Collagen XVIII in tissue homeostasis and dysregulation - Lessons learned from model organisms and human patients.

Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.

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918-922

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scholarly article

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10.18240/IJO.2018.06.04

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2018-06-18T00:00:00Z

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29977801

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6010381

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