Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.

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Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.

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http://www.wikidata.org/entity/Q36220818

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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

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

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2016年论文

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name

Short stature, platyspondyly, ...... gion of COL2A1: a case report.

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Short stature, platyspondyly, ...... gion of COL2A1: a case report.

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type

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Short stature, platyspondyly, ...... gion of COL2A1: a case report.

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Short stature, platyspondyly, ...... gion of COL2A1: a case report.

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Short stature, platyspondyly, ...... gion of COL2A1: a case report.

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Short stature, platyspondyly, ...... gion of COL2A1: a case report.

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P1476

Short stature, platyspondyly, ...... gion of COL2A1: a case report.

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P2093

Apiruk Sangsin

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Chalurmpon Srichomthong

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Kanya Suphapeetiporn

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Monnat Pongpanich

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P2860

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

Mechanism and regulation of the nonsense-mediated decay pathway

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

The spinal manifestations of Stickler's syndrome.

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

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s12881-016-0357-4

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scholarly article

case report

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10.1186/S12881-016-0357-4

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Vorasuk Shotelersuk

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2016-12-12T00:00:00Z

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1048758121

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27955642

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