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Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation

BACKGROUND: Split hand/foot malformation (SHFM) is a congenital disorder characterized by a cleft of the hands and/or feet due to dificiency of central rays. Genomic rearrangement at 10q24 has been found to cause nonsyndromic SHFM (SHFM3). METHODS: Four patients and fourteen unaffected individuals f...

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Hlavní autoři: Dai, Li, Deng, Ying, Li, Nana, Xie, Liang, Mao, Meng, Zhu, Jun
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3637097/
https://ncbi.nlm.nih.gov/pubmed/23596994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-45
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