推荐同事 机构合作 中文 繁體中文 English 한국어 日本語 Português Español

美国ACCDON公司旗下品牌

021-33361733，021-33632861

chinasupport@letpub.com

登录 注册 新注册优惠

The hypothetical role of congenital hypotonia in the development of early coronoid hyperplasia

M Puche, R Guijarro-Martínez… - Journal of Cranio- …, 2011 - Elsevier
Coronoid hyperplasia (CH) is an abnormal bony elongation of a histologically normal coronoid
process. Its definitive cause remains unknown. ... To analyze the possible implication of congenital
hypotonia in the pathogenesis of early coronoid overgrowth.

Vitamin D-Dependent Rickets Type 1: A Rare, but Treatable, Cause of Severe Hypotonia in Infancy

Y Yan, AS Calikoglu… - Journal of Child Neurology, 2011 - jcn.sagepub.com
Abstract Vitamin D-dependent rickets type 1 is an autosomal recessive disorder caused by an
inactivating mutation of the 25-hydroxyvitamin- D-1a-hydroxylase (CYP27B1) gene. Clinical
presentation is characterized by early onset of severe rickets and can include severe ...
Related articles - All 3 versions

… band 13q22. 2-q32. 1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and …

P Grigori, E Panayiotou, C Sismani… - European Journal of …, 2011 - Elsevier
We report on a 9-month old boy carrying a 21 Mb de novo 13q interstitial deletion. The imbalance
was detected by chromosomal analysis and investigated by Fluorescence In Situ Hybridization
(FISH) and Comparative Genomic Hybridization (array-CGH) using two different ...
All 2 versions

Gait pattern in two rare genetic conditions characterized by muscular hypotonia: Ehlers-Danlos and Prader-Willi syndrome

V Cimolin, M Galli, L Vismara, G Grugni… - Research in …, 2011 - Elsevier
This study aimed to quantify and compare the gait pattern in Ehlers–Danlos (EDS) and
Prader–Willi syndrome (PWS) patients to provide data for developing evidence-based rehabilitation
strategies. Twenty EDS and 19 PWS adult patients were evaluated with an optoelectronic ...
All 2 versions

Congenital Hypotonia in a Child With a De Novo 22q13 Monosomy and 2pter Duplication: A Clinical and Molecular Genetic Study

A Trabacca, L Losito, M De Rinaldis… - Journal of Child …, 2011 - jcn.sagepub.com
Abstract The authors describe a 5-year-old girl with a neurological phenotype of 22q13 deletion
syndrome (neonatal and persisting hypotonia, developmental delay, absence of language, decreased
perception of pain) and minor dysmorphisms. Subtelomeric fluorescent in situ ...
Cited by 1 - Related articles - All 3 versions

联系我们 | 站点地图 | 友情链接 | 授权代理商 | 加入我们

© 2010-2024 中国: LetPub上海分公司    网站备案号：沪ICP备10217908号-1    沪公网安备号：31010402006960

增值电信业务经营许可证：沪B2-20211595

礼翰商务信息咨询（上海）有限公司      办公地址：上海市徐汇区漕溪北路88号圣爱大厦1803室

United States: Tel: 1-781-202-9968 Address: 400 5th Ave, Suite 530, Waltham, Massachusetts 02451