A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

Split hand/foot malformation with long bone deficiency (SHFLD) is a congenital limb anomaly where hands and/or feet cleft and syndactyly are associated with long bone defects, usually involving the tibia. Previously published data reported that 17p13.3 chromosomal duplication, including the BHLHA9 g...

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Vydáno v:J Pediatr Genet
Hlavní autoři: Fusco, Carmela, Nittis, Pasquelena De, Alfaiz, Ali Abdullah, Pellico, Maria Teresa, Augello, Bartolomeo, Malerba, Natascia, Zelante, Leopoldo, Reymond, Alexandre, Merla, Giuseppe
Médium: Artigo
Jazyk:Inglês
Vydáno: Georg Thieme Verlag KG 2016
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5423807/
https://ncbi.nlm.nih.gov/pubmed/28496997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0036-1588029
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