Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion

Autor: Purificación Marín-Reina, Antonio Pérez-Aytés, M. Belén Ferrer-Lorente, Francisco Martínez, Carmen Orellana, Mónica Rosello, Ana Herrero-García, Gloria Cabezuelo-Huerta

Publikováno v: Journal of Pediatric Genetics
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
J Pediatr Genet

Langer–Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II; MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency of the TRPS1 and EXT1 genes. Cornelia de Lange's syndrome (CdLS) is a geneticall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa2bcf9c8a9abd71d1e99a95aa2feb9c
https://doi.org/10.1055/s-0039-1694779