Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension

The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key features comprising growth failure, developmental delay, craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified a de novo interstitial distal deletion in a 9 month-...

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Detalles Bibliográficos
Autores principales: Duga, Balazs, Czako, Marta, Komlosi, Katalin, Hadzsiev, Kinga, Torok, Katalin, Sumegi, Katalin, Kisfali, Peter, Kosztolanyi, Gyorgy, Melegh, Bela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066825/
https://www.ncbi.nlm.nih.gov/pubmed/24959202
http://dx.doi.org/10.1186/1755-8166-7-36

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066825/
https://www.ncbi.nlm.nih.gov/pubmed/24959202
http://dx.doi.org/10.1186/1755-8166-7-36

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