Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders

Jobling Rebekah; Stavropoulos Dimitri James; Marshall Christian R.; Cytrynbaum Cheryl; Axford Michelle M.; Londero Vanessa; Moalem Sharon; Orr Jennifer; Rossignol Francis; Lopes Fatima Daniela; Gauthier Julie; Alos Nathalie; Rupps Rosemarie; McKinnon Margaret; Adam Shelin; Nowaczyk Malgorzata J. M.; Walker Susan; Scherer Stephen W.; Nassif Christina; Hamdan Fadi F.; Deal Cheri L.; Soucy Jean-Francois; Weksberg Rosanna; Macleod Patrick; Michaud Jacques L.; Chitayat David

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Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders

机译：Chitayat-Hall和Schaaf-yang综合征：常见的病毒学：扩大Magel2相关疾病的表型

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Background Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified.

机译：背景技术赤度舞厅综合征最初在1990年举例说明，是一种罕见的病症，其特征在于远端血症血症，智力残疾，疑风特征和低钠缺陷，特别是生长激素缺乏。尚未确定遗传性病学。

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来源
《Journal of Medical Genetics》 |2018年第5期|共6页
作者
Jobling Rebekah; Stavropoulos Dimitri James; Marshall Christian R.; Cytrynbaum Cheryl; Axford Michelle M.; Londero Vanessa; Moalem Sharon; Orr Jennifer; Rossignol Francis; Lopes Fatima Daniela; Gauthier Julie; Alos Nathalie; Rupps Rosemarie; McKinnon Margaret; Adam Shelin; Nowaczyk Malgorzata J. M.; Walker Susan; Scherer Stephen W.; Nassif Christina; Hamdan Fadi F.; Deal Cheri L.; Soucy Jean-Francois; Weksberg Rosanna; Macleod Patrick; Michaud Jacques L.; Chitayat David;
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作者单位

Hosp Sick Children Div Clin Genet &

Metab Dept Pediat Toronto ON M5G 1X8 Canada;

Hosp Sick Children Dept Paediat Lab Med Genome Diagnost Toronto ON Canada;

Hosp Sick Children Dept Paediat Lab Med Genome Diagnost Toronto ON Canada;

Hosp Sick Children Div Clin Genet &

Metab Dept Pediat Toronto ON M5G 1X8 Canada;

Hosp Sick Children Dept Paediat Lab Med Genome Diagnost Toronto ON Canada;

Hosp Sick Children Dept Paediat Lab Med Genome Diagnost Toronto ON Canada;

Regenoron New York NY USA;

Hosp Sick Children Dept Paediat Lab Med Genome Diagnost Toronto ON Canada;

CHU St Justine Montreal PQ Canada;

CHU St Justine Montreal PQ Canada;

CHU St Justine Montreal PQ Canada;

CHU St Justine Montreal PQ Canada;

Univ British Columbia Dept Med Genet Vancouver BC Canada;

Univ British Columbia Dept Med Genet Vancouver BC Canada;

Univ British Columbia Dept Med Genet Vancouver BC Canada;

McMaster Univ Div Clin Pathol Hamilton ON Canada;

Hosp Sick Children Ctr Appl Genom Toronto ON Canada;

Hosp Sick Children Ctr Appl Genom Toronto ON Canada;

CHU St Justine Montreal PQ Canada;

CHU St Justine Montreal PQ Canada;

CHU St Justine Montreal PQ Canada;

CHU St Justine Montreal PQ Canada;

Hosp Sick Children Div Clin Genet &

Metab Dept Pediat Toronto ON M5G 1X8 Canada;

Univ Victoria Ctr Biomed Res Victoria BC Canada;

CHU St Justine Montreal PQ Canada;

Hosp Sick Children Div Clin Genet &

Metab Dept Pediat Toronto ON M5G 1X8 Canada;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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1. Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders [J] . Jobling Rebekah, Stavropoulos Dimitri James, Marshall Christian R., Journal of Medical Genetics . 2018,第5期

机译：Chitayat-Hall和Schaaf-yang综合征：常见的病毒学：扩大Magel2相关疾病的表型
2. NOT SO MUCH LIKE PRADER-WILLI SYNDROME: SEVERE PHENOTYPES ASSOCIATED WITH MAGEL2-RELATED DISORDER [J] . Seaver L. H., Prokop J. American journal of medical genetics, Part A . 2019,第4期

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3. A comparison of phenylketonuria with attention deficit hyperactivity disorder: Do markedly different aetiologies deliver common phenotypes? [J] . StevensonM., McNaughtonN. Brain research bulletin . 2013,第Null期

机译：苯丙酮尿症与注意缺陷多动障碍的比较：明显不同的病因是否具有共同的表型？
4. A study of pasteurella multocida as a possible aetiological agent in porcine immune complex glomerulonephritis and dermatitis syndrome [C] . J. R. Thomson, F. A. Lamson, N. Thomson, Congress of the International Pig Veterinary Society . 1999

机译：Parteurella Mudtocad作为猪免疫复合肾小球肾炎和皮炎综合征可能的疾病
5. Expanding a Drosophila model of fetal alcohol spectrum disorder: A forward genetic screen for developmental ethanol exposure phenotypes. [D] . Lafler, Janet. 2015

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6. Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1‐associated Noonan syndrome: Expanding the phenotype and review of the literature [O] . Safwat A. Aly, Kenneth M. Boyer, Brie‐Ann A. Muller, 2020

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7. Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders [O] . Rebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, 2018

机译：Chitayat-Hall和Schaaf-yang综合征：一种常见的嗜期学：扩大Magel2相关疾病的表型

Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders

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