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Short rib polydactyly syndrome: lethal skeletal dysplasiaSíndrome de costillas cortas y polidactilia: displasia esquelética fetal incompatible con la vida

Huertas, Erasmo; Íngar, Jaime; Gutiérrez, Guiselle; Quiñones, Eva María (Universidad Nacional Mayor de San Marcos, Facultad de Medicina Humana, 2010)

Mutation In Ift80 In A Fetus With The Phenotype Of Verma-naumoff Provides Molecular Evidence For Jeune-verma-naumoff Dysplasia Spectrum.

Cavalcanti, Denise P; Huber, Celine; Sang, Kim-Hanh Le Quan; Baujat, Geneviève; Collins, Felicity; Delezoide, Anne-Lise; Dagoneau, Nathalie; Le Merrer, Martine; Martinovic, Jelena; Mello, Marcos Fernando S; Vekemans, Michel; Munnich, Arnold; Cormier-Daire, Valerie (2011)

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Cavalcanti, DP; Huber, C; Sang, KHL; Baujat, G; Collins, F; Delezoide, AL; Dagoneau, N; Le Merrer, M; Martinovic, J; Mello, MFS; Vekemans, M; Munnich, A; Cormier-Daire, V (B M J Publishing GroupLondonInglaterra, 2011)

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

El Hokayem, J; Huber, C; Couve, A; Aziza, J; Baujat, G; Bouvier, R; Cavalcanti, DP; Collins, FA; Cordier, MP; Delezoide, AL; Gonzales, M; Johnson, D; Le Merrer, M; Levy-Mozziconacci, A; Loget, P; Martin-Coignard, D; Martinovic, J; Mortier, GR; Perez, MJ; Roume, J; Scarano, G; Munnich, A; Cormier-Daire, V (B M J Publishing GroupLondonInglaterra, 2012)

Displasia Torácica Asfixiante o Síndrome de Jeune

Sempértegui Cárdenas, Pablo; Escalante Canto, Paul; Maestre Calderón, Manolo Patricio (Universidad de Cuenca, 2017-12)

Jeune Syndrome is a rare skeletal dystrophy, characterized by short ribs and alterations in limbs and pelvis. The respiratory distress is determined by the degree of thoracic stricture, and later, pancreatic or renal ...