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本文引用的文献

1
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.肢端-皮肤-甲-泪腺-牙齿(ADULT)综合征:1例与尺骨-乳腺综合征存在表型重叠且TP63基因有新突变的儿童病例报告
Am J Med Genet A. 2005 Oct 1;138A(2):146-9. doi: 10.1002/ajmg.a.30900.
2
ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.由p63基因错义突变R298Q导致的成人外胚层发育不良综合征。
Clin Exp Dermatol. 2004 Nov;29(6):669-72. doi: 10.1111/j.1365-2230.2004.01643.x.
3
Prenatal diagnosis of acro-dermatoungual-lacrimal-tooth syndrome, a dominantly inherited ectrodactyly.
J Ultrasound Med. 2002 Aug;21(8):921-5. doi: 10.7863/jum.2002.21.8.921.
4
The p63 gene in EEC and other syndromes.EEC及其他综合征中的p63基因。
J Med Genet. 2002 Jun;39(6):377-81. doi: 10.1136/jmg.39.6.377.
5
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.成人综合征中的功能获得性突变揭示了p63中存在第二个反式激活结构域。
Hum Mol Genet. 2002 Apr 1;11(7):799-804. doi: 10.1093/hmg/11.7.799.
6
TP63 gene mutation in ADULT syndrome.
Eur J Hum Genet. 2001 Aug;9(8):642-5. doi: 10.1038/sj.ejhg.5200676.
7
ADULT syndrome allelic to limb mammary syndrome (LMS)?成人综合征与肢体乳腺综合征(LMS)等位基因相关?
Am J Med Genet. 2000 Jan 17;90(2):179-82.
8
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.p53 同源物 p63 的杂合种系突变是 EEC 综合征的病因。
Cell. 1999 Oct 15;99(2):143-53. doi: 10.1016/s0092-8674(00)81646-3.
9
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.肢体乳腺综合征:一种伴有乳腺发育不全、缺指(趾)畸形及其他手足异常的新型遗传性疾病,定位于人类染色体3q27。
Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246.
10
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.成人综合征:一种常染色体显性疾病,伴有色素异常、缺指(趾)畸形、指甲发育异常和牙发育不全。
Am J Med Genet. 1993 Mar 1;45(5):642-8. doi: 10.1002/ajmg.1320450525.

Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome.

作者信息

Eter N, Zerres K, Propping P, Roggenkämper P, Spitznas M

出版信息

Br J Ophthalmol. 2006 Sep;90(9):1206-7. doi: 10.1136/bjo.2006.093088.

DOI:10.1136/bjo.2006.093088
PMID:16929068
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1857391/
Abstract
摘要