Molecular Genetics & Genomic Medicine, 2020 Background Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5–10:100,000 and no racial disparity in prevalence.
Huijuan Zhu, Hui Pan, Shuo Li
exaly +2 more sources
Identification of a Prenatal Profile of Cornelia De Lange Syndrome (CdLS): A Review of 53 CdLS Pregnancies [PDF]
American Journal of Medical Genetics, Part A, 2012 AbstractCornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by growth retardation, cognitive impairment, external and internal structural malformations, and characteristic facial features. Currently, there are no definitive prenatal screening measures that lead to the diagnosis of CdLS.
Kathleen Loomes +2 more
exaly +3 more sources
Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models [PDF]
Cell Death DiscoveryCornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects almost any organ, including the central nervous system. It leads to a wide range of neurodevelopmental delays, and there are currently no available clinical treatments.
Chiara Parodi +20 more
doaj +2 more sources
Stem Cell Research, 2022 Cornelia de Lange syndrome (CdLS) is a multiple congenital anomalies syndrome caused by mutations in the cohesion complex. The mutations in NIPBL, one of cohesion regulatory proteins, are the most frequent cause of CdLS.
Yo Niida, Sumihito Togi, Hiroki Ura
exaly +3 more sources
Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening [PDF]
Frontiers in ImmunologyCornelia de Lange Syndrome (CdLS) is a rare multisystem disorder characterized by craniofacial dysmorphism, growth restriction, limb anomalies, intellectual disability, and mild to moderate immune abnormalities.
Hope Retif +9 more
doaj +2 more sources
Stem Cell Research and Therapy, 2022 Background Cornelia de Lange syndrome (CdLS) is a rare multisystem genetic disorder which is caused by genetic defects involving the Nipped-B-like protein (NIPBL) gene in the majority of clinical cases (60–70%).
Anna Cereseto
exaly +2 more sources
Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome [PDF]
Frontiers in GeneticsBackgroundCornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder involving multi-system organs, causing physical and mental congenital malformation.
Xiao Ting Shao +4 more
doaj +2 more sources
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype [PDF]
Nature CommunicationsThe role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While NIPBL variants are a major cause of Cornelia de Lange Syndrome (CdLS), the role of MAU2 in disease is unclear.
Ilaria Parenti +55 more
doaj +2 more sources
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants [PDF]
BMC OphthalmologyPurpose Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple organs, including the eyes. Ophthalmological findings in individuals with CdLS can vary, as occurs with certain features commonly associated with the syndrome ...
Thainá Vilella +12 more
doaj +2 more sources
The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature [PDF]
Clinical Case ReportsKey Clinical Message We present a 17‐year‐old female with a childhood clinical diagnosis of Cornelia de Lange Syndrome (CdLS), however later genetic testing identified compound heterozygous variants in TAF6, consistent with AYS.
Annie Pappas +6 more
doaj +2 more sources