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A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly

Studies in mouse and chick have shown that the 5′ HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5′ HOXD genes has recently been proposed to un...

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Autori principali: Goodman, Frances R., Majewski, Frank, Collins, Amanda L., Scambler, Peter J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2002
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC384929/
https://ncbi.nlm.nih.gov/pubmed/11778160
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