Fibrochondrogenesis
National Institutes of Health
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Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the…
Fibrochondrogenesis is one of the rare lethal osteochondrodysplasias, which show abnormal maturation, and disturbed growth of…
An Erratum has been published for this article in Prenatal Diagnosis 22(13) 2002, 1241.
A second case of fibrochrondrogenesis in a consanguineous family is described. The fact that both sexes are affected in this…
Fibrochondrogenesis is a very rare form of lethal short-limb dwarfism, with 8 cases described since it was first reported in 1978…
Fibrochondrogenesis, a rare lethal chondrodysplasia has been reported on nine patients. We report on a boy with…
We report an Omani child with fibrochondrogenesis. This neonatally lethal bone dysplasia is characterized by a distinctive facial…
Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by…
Fibrochondrogenesis is a distinct, neonatally lethal, short-limb skeletal dysplasia which was first described in a single patient…