Isolated brachydactyly type E caused by a <it>HOXD13 </it>nonsense mutation: a case report

<p>Abstract</p> <p>Background</p> <p>Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isolated trait or as part of...

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Egile Nagusiak: Jamsheer Aleksander (Egilea), Sowińska Anna (Egilea), Kaczmarek Leszek (Egilea), Latos-Bieleńska Anna (Egilea)
Formatua: Liburua
Argitaratua: BMC, 2012-01-01T00:00:00Z.
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