| Title |
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)
|
|---|---|
| Published in |
Acta Medica Austriaca, July 2008
|
| DOI | 10.1007/s00508-008-0995-4 |
| Pubmed ID | |
| Authors |
Gerda Hofstetter, Nicole Concin, Christian Marth, Tuula Rinne, Martin Erdel, Andreas Janecke |
| Abstract |
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by the congenital absence of uterus and upper part of the vagina as a result of Mullerian duct agenesis. The combination of MRKH syndrome with renal anomalies and cervicothoracic dysplasia is known as MURCS association (Mullerian aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia). The etiology remains poorly understood. We delineate this disease by reporting on a 16-year-old patient showing the cardinal features of MURCS association accompanied by a persistent left superior vena cava and atrial septal defect, orofacial clefting, and mild reduction deformities of the left hand. Fluorescence in situ hybridization did not show major deletions or duplications of the DiGeorge/VCFS (velocardiofacial syndrome) region at chromosome 22q11.1 as well as the TBX5/TBX3 region at 12q24.1. In addition, sequencing of the TP63L (p63) gene, residing at 3q27, remained normal in the presented patient. Thus, we provide further evidence for the genetic heterogeneity of MURCS association. |
Mendeley readers
The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 21 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 29% |
| Researcher | 3 | 14% |
| Student > Master | 3 | 14% |
| Student > Bachelor | 2 | 10% |
| Student > Postgraduate | 2 | 10% |
| Other | 3 | 14% |
| Unknown | 2 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 8 | 38% |
| Medicine and Dentistry | 8 | 38% |
| Psychology | 1 | 5% |
| Computer Science | 1 | 5% |
| Unknown | 3 | 14% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 22 July 2018.
All research outputs
#8,556,131
of 25,420,980 outputs
Outputs from Acta Medica Austriaca
#285
of 967 outputs
Outputs of similar age
#33,587
of 95,693 outputs
Outputs of similar age from Acta Medica Austriaca
#3
of 9 outputs
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