Cornelia de Lange syndrome (CdLS; MIM# 122470, 300590, 610759, 614701, 300882) is a
rare and clinically variable disorder that affects multiple organs. It is characterized by …

Children with Down syndrome (DS) have a 10-to 20-fold greater predisposition to develop
acute leukemia compared to the general population, with a skew towards myeloid leukemia …

SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to
cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing …

The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a
pivotal role in genome organization and gene regulation. Pathogenic variants in SMC1A are …

De novo missense mutations and in‐frame coding deletions in the X‐linked gene SMC1A
(structural maintenance of chromosomes 1A), encoding part of the cohesin complex, are …

Abstract Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited genetic
multisystem developmental condition with considerable phenotypic and allelic …

SMC1A variants causing Cornelia de Lange syndrome (CdLS) produce another phenotype
characterized by moderate to severe neurological impairment and severe early-onset …

Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation
have been reported, limiting understanding of the full extent of the phenotype. Compared to …

Mycobacterium avium (MA) belongs to the intracellular parasitic bacteria. To better
understand how MA survives within macrophages and the different pathogenic mechanisms …

Los Síndromes de Langer Giedion (LGS) y el de Cornelia de (CdLS) son síndromes
congénitos raros, causados por una alteración cromosómica y pueden aparecer …