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Pediatría Atención Primaria
Print version ISSN 1139-7632
Abstract
GARCIA BARRIONUEVO, Claudia; MARQUEZ MIRA, Pedro Luis; CROCHE SANTANDER, Borja and LOPEZ DIAZ, Román Jesús. Suffocating thoracic dysplasia. Rev Pediatr Aten Primaria [online]. 2021, vol.23, n.89, pp.91-94. Epub May 09, 2022. ISSN 1139-7632.
Abstract
Jeune syndrome or suffocating thoracic dysplasia is a genetic disease with autosomal recessive inheritance, characterized by presenting a quirky phenotype. The diagnosis is clinical-radiological. Mutations in genes IFT80, DYNC2H1, WDR19, IFT140 and TTC21B that encode intraflagellar transport proteins responsible for the disease have been described.
Keywords : Congenital malformation; Jeune syndrome.
