首页> 外文期刊>American journal of medical genetics, Part A >FRIED-PETTIGREW SYNDROME: PLEIOTROPICX-LINKED INTELLECTUAL DISABILITY WITH POSTNATAL MICROCEPHALY, HYDROCEPHALUS, BRAIN MALFORMATIONS, IRON-CALCIUM DEPOSITION AND LATE NEURODEGENERATION ASSOCIATED WITH AP1S2 MUTATIONS

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FRIED-PETTIGREW SYNDROME: PLEIOTROPICX-LINKED INTELLECTUAL DISABILITY WITH POSTNATAL MICROCEPHALY, HYDROCEPHALUS, BRAIN MALFORMATIONS, IRON-CALCIUM DEPOSITION AND LATE NEURODEGENERATION ASSOCIATED WITH AP1S2 MUTATIONS

机译：腓特烈综合症：多发性脊髓相关性智力障碍，伴有后期微脓毒症，髋臼，脑畸形，铁钙沉积和与AP1S2突变相关的晚期神经变性

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《American journal of medical genetics, Part A》 |2015年第8期|共1页
作者
Dobyns W. B.; Aldinger K. A.;
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正文语种 eng
中图分类医学遗传学;
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1. FRIED-PETTIGREW SYNDROME: PLEIOTROPICX-LINKED INTELLECTUAL DISABILITY WITH POSTNATAL MICROCEPHALY, HYDROCEPHALUS, BRAIN MALFORMATIONS, IRON-CALCIUM DEPOSITION AND LATE NEURODEGENERATION ASSOCIATED WITH AP1S2 MUTATIONS [J] . Dobyns W. B., Aldinger K. A. American journal of medical genetics, Part A . 2015,第8期

机译：腓特烈综合症：多发性脊髓相关性智力障碍，伴有后期微脓毒症，髋臼，脑畸形，铁钙沉积和与AP1S2突变相关的晚期神经变性
2. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) [J] . CacciagliP., DesvignesJ.-P., GirardN., European journal of human genetics: EJHG . 2014,第3期

机译：AP1S2在X-Linked Dandy-Walker畸形中突变，具有智力残疾，基础神经节病和癫痫发作（Pettigrew综合征）
3. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. [J] . Mochida GH, Mahajnah M, Hill A The American Journal of Human Genetics . 2009,第6期

机译：TRAPPC9的截短突变与常染色体隐性智力障碍和出生后小头畸形相关。
4. The Role of CASK in Neuronal Morphogenesis and Brain Size in Drosophila: A Genetic Model of Human Intellectual Disability With Microcephaly [D] . Tello Vega, Judith Arane. 2018

机译：Cask在果蝇中神经元形态发生和脑大小的作用：微头人智力残疾的遗传模型
5. AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability basal ganglia disease and seizures (Pettigrew syndrome) [O] . Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, 2014

机译：AP1S2在与X连锁的Dandy-Walker畸形中发生突变具有智力残疾基底神经节疾病和癫痫发作（Pettigrew综合征）
6. AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) [O] . Cacciagli, Pierre, Desvignes, Jean-Pierre, Girard, Nadine, 2013

机译：AP1S2在与X连锁的Dandy-Walker畸形中发生突变，具有智力残疾，基底神经节疾病和癫痫发作（Pettigrew综合征）

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