👤 Antonio Pérez-Aytés
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Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without
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Ana Herrero-García
,
Purificación Marín-Reina
,
Gloria Cabezuelo-Huerta
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· 2020 · Journal of pediatric genetics
· added 2026-04-24
Ana Herrero-García
,
Purificación Marín-Reina
,
Gloria Cabezuelo-Huerta
,
M Belén Ferrer-Lorente
,
Mónica Rosello
,
Carmen Orellana
,
Francisco Martínez
,
Antonio Pérez-Aytés
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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
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DOI:
10.1055/s-0039-1694779
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