Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare skeletal dysplasia with only a few cases reported in the literature. Affected individuals have a disproportionate short stature with a short and stiff neck and trunk. The limbs appear relatively long and may show flexion contractures of...

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Main Authors: Hellemans, Jan, Simon, Marleen, Dheedene, Annelies, Alanay, Yasemin, Mihci, Ercan, Rifai, Laila, Sefiani, Abdelaziz, van Bever, Yolande, Meradji, Morteza, Superti-Furga, Andrea, Mortier, Geert
格式: Artigo
語言:Inglês
出版: Elsevier 2009
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2790567/
https://ncbi.nlm.nih.gov/pubmed/20004766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.11.005
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