Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

BACKGROUND: A partial duplication of the distal long arm of chromosome 5 (5q35-- > qter) is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental retardation, microcephaly, short stature, skeletal ano...

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Detalles Bibliográficos
Autores principales: Jamsheer, Aleksander, Sowińska, Anna, Simon, Dorota, Jamsheer-Bratkowska, Małgorzata, Trzeciak, Tomasz, Latos-Bieleńska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576294/
https://www.ncbi.nlm.nih.gov/pubmed/23342975
http://dx.doi.org/10.1186/1471-2350-14-13

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576294/
https://www.ncbi.nlm.nih.gov/pubmed/23342975
http://dx.doi.org/10.1186/1471-2350-14-13

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