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Items: 4

1.
Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report
Weijuan Su, Xiulin Shi, Mingzhu Lin, Caoxin Huang, Liying Wang, Haiqu Song, Yanzhen Zhuang, Haifang Zhang, Nanzhu Li, Xuejun Li
BMC Med Genet. 2018; 19: 211. Published online 2018 Dec 12. doi: 10.1186/s12881-018-0732-4
PMCID:
PMC6292130
AbstractArticlePDF–4.7M
2.
Genetic analysis of a congenital split-hand/split-foot malformation 4 pedigree
Xiao Yang, Xinfu Lin, Yaobin Zhu, Jiewei Luo, Genhui Lin
Mol Med Rep. 2018 Jun; 17(6): 7553–7558. Published online 2018 Mar 29. doi: 10.3892/mmr.2018.8838
PMCID:
PMC5983954
AbstractArticlePDF–1.1M
3.
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek, Anna Latos-Bieleńska
BMC Med Genet. 2012; 13: 4. Published online 2012 Jan 10. doi: 10.1186/1471-2350-13-4
PMCID:
PMC3278352
AbstractArticlePDF–323K
4.
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
F Goodman, M L Giovannucci-Uzielli, C Hall, W Reardon, R Winter, P Scambler
Am J Hum Genet. 1998 Oct; 63(4): 992–1000. doi: 10.1086/302070
PMCID:
PMC1377502
SummaryPDF–828K

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