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

Bassam R Ali; Jennifer L Silhavy; Nadia A Akawi; Joseph G Gleeson; Lihadh Al-Gazali

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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phy发育异常和独特的面部外观

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《Orphanet journal of rare diseases》 |2012年第s1期|共页
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Bassam R Ali; Jennifer L Silhavy; Nadia A Akawi; Joseph G Gleeson; Lihadh Al-Gazali;
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中图分类全身性疾病;
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1. 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。
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. Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. [J] . Cho TJ, Kim OH, Lee HR, Journal of Korean medical science . 2010,第7期

机译：由DTDST（SLC26A2）基因中的新型复合杂合突变引起的韩国女孩的常染色体隐性多发性phy骨发育异常。
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. 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
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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