一名患有伯纳德-索利尔综合征且22q11.2区域存在迪乔治/心脏-颜面综合征染色体区域缺失的患者的鉴定。 - Suppr

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超能文献

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

作者信息

Budarf M L, Konkle B A, Ludlow L B, Michaud D, Li M, Yamashiro D J, McDonald-McGinn D, Zackai E H, Driscoll D A

机构信息

Division of Human Genetics, Children's Hospital of Philadelphia, PA 19104, USA.

出版信息

Hum Mol Genet. 1995 Apr;4(4):763-6. doi: 10.1093/hmg/4.4.763.

DOI:10.1093/hmg/4.4.763

PMID:7633430

Abstract

摘要

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Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.一名患有伯纳德-索利尔综合征且22q11.2区域存在迪乔治/心脏-颜面综合征染色体区域缺失的患者的鉴定。

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Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region.伴有脊髓脊膜膨出和22q11区域缺失的心脏颜面综合征和迪格奥尔格综合征

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Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.DiGeorge/心脏-颜面综合征中母源缺失过多。对22例新患者的研究及文献综述。

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