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

• Asıl Yazarlar: Jamsheer Aleksander (Yazar), Sowińska Anna (Yazar), Simon Dorota (Yazar), Jamsheer-Bratkowska Małgorzata (Yazar), Trzeciak Tomasz (Yazar), Latos-Bieleńska Anna (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2013-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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...