Ma Concepción Gil-Rodríguez

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1.5 Mutational spectrum CdLS is a congenital autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked dominant (SMC1A and HDAC8) disorder characterized by facial dysmorphism, preand post-natal growth retardation, developmental, intellectual disability, and multiorgan involvement.1,2 Currently, it is estimated that ~ 80% of patients with CdLS have an(More)
To the Editor : Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3 and RAD21 ) or Xlinked (SMC1A and HDAC8 ) congenital disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability and limb malformations (1). Currently, mutations in about 70% of the patients studied have been identified(More)
The mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase deficiency (MIM 600234) is an autosomic recessive inborn error of metabolism, hard to characterize and probably underdiagnosed (Thompson et al., 1997). The enzyme failure is caused by mutations in the gene HMGCS2, located in chromosome 1. The illness was first diagnosed in 1997 (Thompson et(More)
The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, growth and cognitive impairment. Mutations(More)
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