Bardet-Biedl综合征1例报告

成胜权; 曹玉红; 张劲松; 强欢

doi:10.7499/j.issn.1008-8830.2013.11.011

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中国当代儿科杂志 ›› 2013, Vol. 15 ›› Issue (11) : 975-976. DOI: 10.7499/j.issn.1008-8830.2013.11.011

遗传性疾病专题

Bardet-Biedl综合征1例报告

成胜权，曹玉红，张劲松，强欢

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A case report of Rare Bardet-Biedl syndrome

CHENG Sheng-Quan, CAO Yu-Hong, ZHANG Jin-Song, QIANG Huan

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成胜权，曹玉红，张劲松，强欢. Bardet-Biedl综合征1例报告[J]. 中国当代儿科杂志. 2013, 15(11): 975-976 https://doi.org/10.7499/j.issn.1008-8830.2013.11.011

CHENG Sheng-Quan, CAO Yu-Hong, ZHANG Jin-Song, QIANG Huan. A case report of Rare Bardet-Biedl syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2013, 15(11): 975-976 https://doi.org/10.7499/j.issn.1008-8830.2013.11.011

参考文献

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[5] Sheffield VC. The blind leading the obese: the molecular pathophysiology of a human obesity syndrome[J]. Trans Am Clin Climatol Assoc, 2010, 121: 172-182.

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[7] 郑湘榕, 尹飞, 黄榕, 向秋莲. Bardet-Biedl综合征1例[J]. 中国当代儿科杂志, 2011, 13(7): 602-603.

[8] Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, et al. Mutations in ALMSI cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome[J]. Nat Genet, 2002, 31(1): 74-78.