A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

Crow YJ; Goodship JA; Wright C; Coady AM; Conley ME; Gennery AR

首页> 外文期刊>American journal of medical genetics, Part A >A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

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A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

机译：一种新近公认的，可能的常染色体隐性遗传综合征，包括丙种球蛋白血症，小头畸形，颅突狭窄，严重的皮炎和其他特征。

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摘要

We present a novel, likely autosomal recessive, multi-system disorder seen in three siblings, two males and one female, born to nonconsanguineous parents. The disease manifests as agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. The constellation of clinical signs seen in this family likely represents a new and recognizable form of agammaglobulinemia due to a defect in early B-cell maturation.

机译：我们提出了一种新的，可能是常染色体隐性遗传的，多系统疾病，该疾病发生在三名兄弟姐妹中，两名男性和一名女性，由非血缘父母出生。该疾病表现为无球蛋白血症，伴小头畸形，明显的发育迟缓，颅突狭窄，严重的皮炎，c裂，胸膜变窄和睑裂。由于早期B细胞成熟的缺陷，在这个家族中看到的临床体征可能代表了一种新的可识别形式的丙种球蛋白血症。

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来源
《American journal of medical genetics, Part A》 |2006年第11期|共5页
作者
Crow YJ; Goodship JA; Wright C; Coady AM; Conley ME; Gennery AR;
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正文语种 eng
中图分类医学遗传学;
关键词
Abnormalities; Multiple; Agammaglobulinemia; Craniosynostoses; Dermatitis; 畸形; 多发性; 丙种球蛋白缺乏血症; 颅缝早闭; 皮炎; 基因; 隐性; 小头畸形;

机译：Abnormalities;Multiple;Agammaglobulinemia;Craniosynostoses;Dermatitis;畸形;多发性;丙种球蛋白缺乏血症;颅缝早闭;皮炎;基因;隐性;小头畸形;

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1. A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features. [J] . Crow YJ, Goodship JA, Wright C, American journal of medical genetics, Part A . 2006,第11期

机译：一种新近公认的，可能的常染色体隐性遗传综合征，包括丙种球蛋白血症，小头畸形，颅突狭窄，严重的皮炎和其他特征。
2. Newly Recognized Recessive Syndrome Characterized by Dysmorphic Features, Hypogonadetropic Hypogonadism, Severe Microcephaly, and Sensorineural Hearing Loss Maps to 3p21.3 [J] . Emma M. Jenkinson, Helen Kingston, Jill Urquhart, American journal of medical genetics, Part A . 2011,第12期

机译：新近公认的隐性综合症，特征在于畸形特征，性腺机能减退性性腺机能减退，严重的小头畸形和感觉神经性听力损失映射至3p21.3
3. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes [J] . BartholdiD., Stray-PedersenA., Azzarello-BurriS., American journal of medical genetics, Part A . 2014,第5期

机译：一种新发现的13q12.3微缺失综合症，特征在于智力障碍，小头畸形和湿疹/特应性皮炎，包括HMGB1和KATNAL1基因
4. A Newly Discovered Coronavirus is the Primary Cause of Severe Acute Respiratory Syndrome [C] . . -1

机译：新发现的冠状病毒是严重急性呼吸系统综合症的主要原因
5. In search of a novel autosomal recessive cause of non syndromic intellectual disability. [D] . Saleh, Shamsah H. 2015

机译：在寻找一种新的常染色体隐性非综合征性智力障碍的病因。
6. Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. [O] . B Z Garty, B Eisenstein, J Sandbank, 1994

机译：弥漫性肾小球硬化导致的小头和先天性肾病综合征：常染色体隐性遗传综合征。
7. Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome [O] . 2020

机译：Agammaglobulinemia-microcephaly-Craniosynostosissis-严重的皮炎综合征

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

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