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Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report

机译：隐性多发性骨骺发育不良（rmED）与 DTDsT 基因中C653s突变的纯合性 - 多层髌骨习惯性脱位的表型，分子诊断和外科治疗：病例报告

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Bonafé Luisa; Scheiderer Wolf-Dieter; Superti-Furga Andrea; Hinrichs Timo; Brenner Rolf E; Mattes Thomas;
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年度 2010
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1. Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report [J] . Timo Hinrichs, Andrea Superti-Furga, Wolf-Dieter Scheiderer, BMC Musculoskeletal Disorders . 2010,第1期

机译：DTDST基因C653S突变的纯合性隐性多发性phy骨发育异常（rMED）-多层骨习惯性脱位的表型，分子诊断和外科治疗：病例报告
2. A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. [J] . Miyake A, Nishimura G, Futami T, Journal of human genetics . 2008,第8期

机译：新的和复发的DTDST突变的复合杂合子导致新的中间表型的Desbuquois发育不良，萎缩性发育不良和隐性形式的多骨phy发育不良。
3. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. [J] . Superti Furga-A, Neumann L, Riebel T, Journal of Medical Genetics . 1999,第8期

机译：由DTDST突变引起的遗传性多发性epi骨发育异常，具有正常的身材，棍脚和双层骨。
4. Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report [O] . Timo Hinrichs, Andrea Superti-Furga, Wolf-Dieter Scheiderer, 2010

机译：DTDST基因C653S突变的纯合性隐匿性多发性骨phy发育不良（rMED）-多层pat骨习惯性脱位的表型分子诊断和外科治疗：病例报告
5. Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. [O] . Hinrichs, Timo, Superti-Furga, Andrea, Scheiderer, Wolf-Dieter, 2010

机译：DTDST基因C653S突变纯合性的隐性多发性骨发育不良（rMED）-表型，多层diagnosis骨习惯性脱位的分子诊断和外科治疗：病例报告。

Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report

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