Ectrodactyly, ectodermal dysplasia, cleft lip and palate (EEC)--a rare syndrome.
作者信息
Parkash H, Grewal M S, Sidhu S S
出版信息
Indian J Pediatr. 1983 May-Jun;50(404):337-40. doi: 10.1007/BF02752774.
PMID:6668041
Abstract
摘要
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Ectrodactyly, ectodermal dysplasia, cleft lip and palate (EEC)--a rare syndrome.缺指（趾）-外胚层发育不良-唇腭裂综合征（EEC）——一种罕见综合征。
Indian J Pediatr. 1983 May-Jun;50(404):337-40. doi: 10.1007/BF02752774.
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Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss.缺指（趾）-外胚层发育不良-唇腭裂综合征。其与传导性听力损失的关联。
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Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome.EEC综合征潜在的p63基因杂合性种系错义突变。
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The EEC syndrome and its ocular manifestations.EEC综合征及其眼部表现。
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Incomplete EEC syndrome in a patient with mosaic monosomy 21.一名患有嵌合型21号染色体单体的患者出现不完全性EEC综合征。
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The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization.通过荧光原位杂交技术，EEC综合征（缺指（趾）畸形、外胚层发育不良和唇腭裂）的断点被确定在7q11.21和9p12。
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THE SYNDROMES OF CLEFT LIP, CLEFT PALATE AND LOBSTER-CLAW DEFORMITIES OF HANDS AND FEET.唇裂、腭裂及手足龙虾爪样畸形综合征
Plast Reconstr Surg. 1963 Dec;32:627-36. doi: 10.1097/00006534-196312000-00006.
2
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.缺指（趾）畸形、外胚层发育不良和唇腭裂综合征
Am J Dis Child. 1970 Aug;120(2):160-3. doi: 10.1001/archpedi.1970.02100070104016.
3
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.缺指（趾）-外胚层发育不良-唇腭裂（EEC）综合征
Clin Genet. 1972;3(5):396-400. doi: 10.1111/j.1399-0004.1972.tb01473.x.
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The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.缺指（趾）-外胚层发育不良-唇腭裂综合征：一个显示显性遗传模式的家系报告。
Clin Genet. 1972;3(5):295-302. doi: 10.1111/j.1399-0004.1972.tb01461.x.
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The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies.伴有外胚层缺陷、唇腭裂、泪道异常和肾脏异常的龙虾爪畸形。
Clin Genet. 1973;4(5):369-75. doi: 10.1111/j.1399-0004.1973.tb01162.x.
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The EEC syndrome.EEC综合征
Am J Dis Child. 1974 Jun;127(6):840-4. doi: 10.1001/archpedi.1974.02110250066009.
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The syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).缺指（趾）-外胚层发育不良-唇腭裂综合征（EEC）
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