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Clinical molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia

机译：雅库特地区新型CUL7突变型矮身材综合征的临床分子和组织病理学特征：亚洲新人群

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摘要

BackgroundIn total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism but with normal intelligence have been identified.

机译：背景总共鉴定出了37个雅库特（Yakut）家庭中患有矮身材综合征的患者，这些患者患有常染色体隐性遗传性产前和产后非进行性生长衰竭和面部畸形，但智力正常。

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期刊名称 Journal of Medical Genetics
作者
N Maksimova; K Hara; A Miyashia; I Nikolaeva; A Shiga; A Nogovicina; A Sukhomyasova; V Argunov; A Shvedova; T Ikeuchi; M Nishizawa; R Kuwano; O Onodera;
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作者单位

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年(卷),期 2007(44),12
年度 2007
页码 772–778
总页数 7
原文格式 PDF
正文语种
中图分类遗传学;
关键词
3‐M syndrome CUL7 Yakuts neonatal respiratory distress vascularisation;

机译：3‐M综合征;CUL7;Yakuts;新生儿呼吸窘迫;血管形成;

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1. Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia. [J] . Maksimova N, Hara K, Miyashia A, Journal of Medical Genetics . 2007,第12期

机译：雅库特地区出现新型CUL7突变的矮身材综合征的临床，分子和组织病理学特征：亚洲新人群。
2. A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows [J] . Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Taiwanese journal of obstetrics and gynecology . 2018,第4期

机译：一名具有18p缺失综合征的13岁女孩，表现出特纳综合征样临床特征，包括身材矮小，手蹼短，后发线低，眼睑浮肿和肘部抬高角度
3. A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows [J] . Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Taiwanese journal of obstetrics and gynecology . 2018,第4期

机译：一个13岁的女孩，18p缺失综合征呈现特纳综合征样临床特征，近地上的临床特征，短蹼，低发线，浮肿的眼睑和柔软的肘部携带角度增加
4. Clinical and immune-mediated syndrome (CAIMS) in clinical practice: features and strategies in immune and molecular diagnostics [C] . M.A. Paltsev, N.E. Cherepakhina, Z.S. Shogenov, World Asthma COPD Forum . 2009

机译：临床实践中的临床和免疫介导的综合征（CAIMS）：免疫和分子诊断的特征和策略
5. Equine salmonellosis: Molecular epidemiology of clinical isolates and the effect of antibiotics on the cecal microenvironment with particular reference to short-chain fatty acids and the Salmonella plasmid virulence (spv) genes. [D] . Vetro Widenhouse, Tamara Shea. 2004

机译：马沙门氏菌病：临床分离株的分子流行病学以及盲肠微环境中抗生素的作用，特别是短链脂肪酸和沙门氏菌质粒毒力（spv）基因。
6. Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features [O] . Daham De Silva, Kathleen A. Williamson, Kavinda Chandimal Dayasiri, 2018

机译：南亚儿童吉利斯派综合征：一例确诊ITPR1基因杂合突变的病例报告并复习了临床和分子特征
7. Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia [O] . Maksimova, N, Hara, K, Miyashia, A, 2007

机译：雅库特地区新型CUL7突变型矮身材综合征的临床，分子和组织病理学特征：亚洲新人群

Clinical molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia

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