Title |
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
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Published in |
BMC Medical Genomics, June 2012
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DOI | 10.1186/1471-2350-13-43 |
Pubmed ID | |
Authors |
Jolanta Wierzba, María Concepción Gil-Rodríguez, Anna Polucha, Beatriz Puisac, María Arnedo, María Esperanza Teresa-Rodrigo, Dorota Winnicka, Fausto G Hegardt, Feliciano J Ramos, Janusz Limon, Juan Pié |
Abstract |
Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. Mutations in NIPBL gene account for about 60% of patients with CdLS. This gene encodes a key regulator of the Cohesin complex, which controls sister chromatid segregation during both mitosis and meiosis. Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, short stature, and gonadal dysgenesis. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Croatia | 1 | 3% |
Unknown | 38 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 7 | 18% |
Researcher | 6 | 15% |
Student > Bachelor | 6 | 15% |
Student > Doctoral Student | 5 | 13% |
Lecturer | 2 | 5% |
Other | 6 | 15% |
Unknown | 7 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 14 | 36% |
Biochemistry, Genetics and Molecular Biology | 7 | 18% |
Psychology | 4 | 10% |
Nursing and Health Professions | 3 | 8% |
Agricultural and Biological Sciences | 3 | 8% |
Other | 2 | 5% |
Unknown | 6 | 15% |