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Fibrochondrogenesis

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Fibrochondrogenesis" returned 0 free, full-text review articles. First 0 results:
Fibrochondrogenesis: prenatal diagnosis and outcome.
Last Updated: Oct 16, 2013

We studied 20 cases with fibrochondrogenesis (FCG) diagnosed prenatally. Four cases were diagnosed at our fetal unit, and 16 cases were identified through a review of literature (in English). The prenatal diagnosis of FCG was made in 4/20 (20%). Six (30%) patients opted for termination ...

Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis.
Last Updated: Nov 02, 2019

Fibrochondrogenesis, a rare lethal chondrodysplasia has been reported on nine patients. We report on a boy with fibrochondrogenesis whose parents were second cousins. Prenatal ultrasonography performed at 22 weeks of gestation revealed an intrauterine growth retardation, an apparently ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Fibrochondrogenesis" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Fibrochondrogenesis" returned 6 free, full-text research articles. First few results:
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
Last Updated: Sep 30, 2020

Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the pro╬▒1(XI) chain of type XI collagen, COL11A1. The first of two cases reported here was the affected offspring of first cousins and sequence analysis excluded ...

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