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Items: 4

1.
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit
Helga Rehder, Franco Laccone, Susanne G. Kircher, Ralf L. Schild, Christiane Rapp, Rainer Bald, Bernt Schulze, Jana Behunova, Juergen Neesen, Katharina Schoner
Am J Med Genet A. 2018 Jul; 176(7): 1559–1568. Published online 2018 May 23. doi: 10.1002/ajmg.a.38828
PMCID:
PMC6585644
AbstractArticlePDF–1.1M
2.
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
3.
Identification of Duplication Downstream of BMP2 in a Chinese Family with Brachydactyly Type A2 (BDA2)
Xudong Liu, Linghan Gao, Aman Zhao, Rui Zhang, Baohu Ji, Lei Wang, Yonglan Zheng, Bingfang Zeng, Robert K. Valenzuela, Lin He, Jie Ma
PLoS One. 2014; 9(4): e94201. Published online 2014 Apr 7. doi: 10.1371/journal.pone.0094201
PMCID:
PMC3978006
AbstractArticlePDF–814K
4.
Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement
Soo Hyun Seo, Mi Jung Park, Shin-Hye Kim, Ok-Hwa Kim, Seungman Park, Sung Im Cho, Sung Sup Park, Moon-Woo Seong
Ann Lab Med. 2013 Mar; 33(2): 150–152. Published online 2013 Feb 21. doi: 10.3343/alm.2013.33.2.150
PMCID:
PMC3589643
AbstractArticlePDF–474K

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