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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Détails bibliographiques
Auteurs principaux: Jamsheer, Aleksander, Sowińska, Anna, Simon, Dorota, Jamsheer-Bratkowska, Małgorzata, Trzeciak, Tomasz, Latos-Bieleńska, Anna
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2013
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3576294/
https://ncbi.nlm.nih.gov/pubmed/23342975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-13
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