Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

Jonathan L. Tobin; Matt Di Franco; Erica Eichers; Helen May-Simera; Monica Garcia; Jiong Yan; Robyn Quinlan; Monica J. Justice; Raoul C. Hennekam; James Briscoe; Masazumi Tada; Roberto Mayor; Alan J. Burns; James R. Lupski; Peter Hammond; Philip L. Beales

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Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

机译：在Bardet-Biedl综合征中抑制神经c迁移是颅面畸形和Hirschsprung病的基础

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Facial recognition is central to the diagnosis of many syndromes, and craniofacial patterns may reflect common etiologies. In the pleiotropic Bardet-Biedl syndrome (BBS), a primary ciliopathy with intraflagellar transport dysfunction, patients have a char

机译：面部识别对于许多综合症的诊断至关重要，颅面结构可能反映出常见的病因。在多发性Bardet-Biedl综合征（BBS）中，原发性睫毛病伴鞭毛内运输功能障碍，患者有炭黑

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《Proceedings of the National Academy of Sciences of the United States of America》 |2008年第18期|6714-6719|共6页
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Jonathan L. Tobin; Matt Di Franco; Erica Eichers; Helen May-Simera; Monica Garcia; Jiong Yan; Robyn Quinlan; Monica J. Justice; Raoul C. Hennekam; James Briscoe; Masazumi Tada; Roberto Mayor; Alan J. Burns; James R. Lupski; Peter Hammond; Philip L. Beales;
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收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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5. Apoptosis and craniofacial dysmorphology in fetal alcohol syndrome: Genetic modulation and a contribution of calcium signaling. [D] . Kragtorp, Katherine Ann. 2003

机译：胎儿酒精综合症的细胞凋亡和颅面畸形：遗传调控和钙信号的贡献。
6. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprungs disease in Bardet–Biedl syndrome [O] . Jonathan L. Tobin, Matt Di Franco, Erica Eichers, 2008

机译：在Bardet–Biedl综合征中抑制神经c迁移是颅面畸形和Hirschsprung病的基础
7. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome [O] . Tobin, Jonathan L., Di Franco, Matt, Eichers, Erica, 2008

机译：在Bardet-Biedl综合征中抑制神经c迁移是颅面畸形和Hirschsprung病的基础

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

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