Cornelia de Lange Spectrum

Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre- and postnatal growth retardation, extremity reduction defect...

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Bibliographic Details
Published in:Anales de Pediatría (English Edition)
Main Authors: Ángela Ascaso, María Arnedo, Beatriz Puisac, Ana Latorre-Pellicer, Julia del Rincón, Gloria Bueno-Lozano, Juan Pié, Feliciano J. Ramos
Format: Article
Language:Spanish
Published: Elsevier 2024-05-01
Subjects:
SCdL
Síndrome Cornelia de Lange
Cohesina
NIPBL
HDAC8
SMC1A
Online Access:http://www.sciencedirect.com/science/article/pii/S2341287924001388

Internet

http://www.sciencedirect.com/science/article/pii/S2341287924001388

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