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A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly multiple epiphyseal dysplasia and distinctive facial appearance

机译：KIF7中的突变导致大头畸形常染色体隐性遗传综合征多发性骨epi发育异常和独特的面部外观

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>BackgroundWe previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26.

机译：>背景我们以前报道了一种独特的常染色体隐性遗传综合征的存在，该综合征由大头畸形，多发性骨and发育异常和独特的面部外观映射到15q26染色体构成。

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期刊名称 Orphanet Journal of Rare Diseases
作者
Bassam R Ali; Jennifer L Silhavy; Nadia A Akawi; Joseph G Gleeson; Lihadh Al-Gazali;
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作者单位

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年(卷),期 2012(7),-1
年度 2012
页码 27
总页数 9
原文格式 PDF
正文语种
中图分类医学史;
关键词
KIF7 Acrocallosal Joubert Sonic hedgehog Dysmorphism Multiple epiphyseal dysplasia Fetal hydrolethalus;

机译：KIF7;顶call;Joubert;声波刺猬;畸形;多发性骨phy发育不良;胎儿积水;

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1. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance [J] . Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Orphanet journal of rare diseases . 2012,第S1期

机译：KIF7中的突变导致大头畸形常染色体隐性遗传综合征，多发性骨phy发育异常和独特的面部外观
2. Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. [J] . Bayoumi R, Saar K, Lee YA, Journal of Medical Genetics . 2001,第6期

机译：一个常染色体隐性遗传的大头畸形，多发性骨phy发育异常和独特相的基因定位于染色体15q26。
3. Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. [J] . Bayoumi R, Saar K, Lee YA, Journal of Medical Genetics . 2001,第6期

机译：一个常染色体隐性遗传的大头畸形，多发性骨phy发育异常和独特相的基因定位于染色体15q26。
4. Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa. [D] . Pierce, Kenneth E., Jr. 2011

机译：在常染色体隐性遗传性视网膜炎的犬模型中，每天四个月西地那非对磷酸二酯酶6突变的杂合子载体给药的研究。
5. Localisation of a gene for an autosomal recessive syndrome of macrocephaly multiple epiphyseal dysplasia and distinctive facies to chromosome 15q26 [O] . R. Bayoumi, K. Saar, Y. Lee, 2001

机译：染色体15q26的大头畸形常染色体隐性遗传综合征多个骨epi发育异常和独特相的基因定位
6. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance [O] . Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, 2012

机译：KIF7中的突变导致大头畸形常染色体隐性遗传综合征，多发性骨epi发育异常和独特的面部外观

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly multiple epiphyseal dysplasia and distinctive facial appearance

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