皮肤松弛症的显性和隐性形式。 - Suppr

Suppr

超能文献

The dominant and recessive forms of cutis laxa.

作者信息

Beighton P

出版信息

J Med Genet. 1972 Jun;9(2):216-21. doi: 10.1136/jmg.9.2.216.

DOI:10.1136/jmg.9.2.216

PMID:5046633

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1469035/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56ab/1469035/39228ae04b98/jmedgene00361-0082-a.jpg

相似文献

The dominant and recessive forms of cutis laxa.皮肤松弛症的显性和隐性形式。

J Med Genet. 1972 Jun;9(2):216-21. doi: 10.1136/jmg.9.2.216.

Cutis laxa-a heterogeneous disorder.皮肤松弛症——一种异质性疾病。

Birth Defects Orig Artic Ser. 1974;10(10):126-31.

Cutis laxa.皮肤松弛症

Johns Hopkins Med J. 1982 Apr;150(4):148-53.

[Cutis laxa. Classification, clinical aspects and molecular defects].[皮肤松弛症。分类、临床特征及分子缺陷]

Hautarzt. 1984 Oct;35(10):506-11.

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.三个常染色体隐性遗传2型皮肤松弛症家族中PYCR1基因的突变

Eur J Med Genet. 2013 Jun;56(6):336-9. doi: 10.1016/j.ejmg.2013.03.006. Epub 2013 Mar 24.

Congenital cutis laxa with retardation of growth and development.先天性皮肤松弛症伴生长发育迟缓。

J Med Genet. 1987 Sep;24(9):556-61. doi: 10.1136/jmg.24.9.556.

Cutis laxa of the autosomal recessive type in a consanguineous family.一个近亲家庭中的常染色体隐性遗传性皮肤松弛症。

Eur J Dermatol. 2003 Nov-Dec;13(6):529-33.

Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.伴有韧带松弛和发育迟缓的先天性皮肤松弛综合征：来自土耳其的一对兄妹病例报告

Am J Med Genet. 1990 Sep;37(1):6-9. doi: 10.1002/ajmg.1320370103.

Congenital cutis laxa.先天性皮肤松弛症。

Dermatologica. 1989;179(2):79-83. doi: 10.1159/000248317.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.在一种伴有糖基化先天性联合缺陷的常染色体隐性遗传性皮肤松弛综合征中定义表型。

Eur J Hum Genet. 2008 Jan;16(1):28-35. doi: 10.1038/sj.ejhg.5201947. Epub 2007 Oct 31.

引用本文的文献

The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up.首例日本常染色体显性遗传性皮肤松弛症病例，其弹性蛋白基因第30外显子发生移码突变，并伴有小气道疾病，随访8年。

BMC Pulm Med. 2024 Oct 1;24(1):481. doi: 10.1186/s12890-024-03290-5.

Acquired Cutis Laxa on the Upper Eyelids and Earlobes: A Case Report and Literature Review.上睑及耳垂获得性皮肤松弛症：一例报告及文献复习

Arch Plast Surg. 2022 May 27;49(3):418-422. doi: 10.1055/s-0042-1748657. eCollection 2022 May.

Genetics of the extracellular matrix in aortic aneurysmal diseases.细胞外基质在主动脉瘤疾病中的遗传学研究。

Matrix Biol. 2018 Oct;71-72:128-143. doi: 10.1016/j.matbio.2018.04.005. Epub 2018 Apr 12.

Elastin-driven genetic diseases.弹性蛋白驱动的遗传性疾病。

Matrix Biol. 2018 Oct;71-72:144-160. doi: 10.1016/j.matbio.2018.02.021. Epub 2018 Feb 28.

Cutis laxa presenting as recurrent ileus.表现为反复性肠梗阻的皮肤松弛症。

Gastroenterol Rep (Oxf). 2016 Feb;4(1):77-9. doi: 10.1093/gastro/gou045. Epub 2014 Jul 9.

Clinical presentation of a patient with congenital cutis laxa and abnormal thyroid hormone levels.一名患有先天性皮肤松弛症且甲状腺激素水平异常的患者的临床表现。

Case Rep Dermatol. 2014 Feb 17;6(1):43-8. doi: 10.1159/000360125. eCollection 2014 Jan.

Radiologic findings in cutis laxa syndrome and unusual association with hypertrophic pyloric stenosis.

Iran J Radiol. 2013 Jun;10(2):94-8. doi: 10.5812/iranjradiol.4064. Epub 2013 May 20.

The skin: a mirror to the gut.皮肤：肠道的一面镜子。

Int J Colorectal Dis. 2013 Jul;28(7):889-913. doi: 10.1007/s00384-012-1637-x. Epub 2013 Jan 18.

Mechanisms of emphysema in autosomal dominant cutis laxa.常染色体显性遗传皮肤松弛症肺气肿的发病机制。

Matrix Biol. 2010 Sep;29(7):621-8. doi: 10.1016/j.matbio.2010.06.005. Epub 2010 Jun 28.

Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.结缔组织及相关疾病与早产：早产相关基因线索

Placenta. 2009 Mar;30(3):207-15. doi: 10.1016/j.placenta.2008.12.007. Epub 2009 Jan 18.

本文引用的文献

An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome. A new medical entity.一种肢端肥大症样、皮肤松垂症、角膜白斑综合征。一种新的医学病症。

Arch Ophthalmol. 1962 Dec;68:722-6. doi: 10.1001/archopht.1962.00960030726004.

Cutis hyperelastica (Ehlers-Danlos) and cutis laxa.弹性过度性皮肤（埃勒斯-当洛综合征）及皮肤松弛症。

Br J Plast Surg. 1963 Jan;16:84-94. doi: 10.1016/s0007-1226(63)80083-1.

Ehlers-Danlos syndrome and cutis laxa: an account of families in the Oxford area.埃勒斯-当洛综合征与皮肤松弛症：牛津地区家族病例报告

Ann Hum Genet. 1962 May;25:313-21. doi: 10.1111/j.1469-1809.1962.tb01768.x.

Primary elastolysis. Report of a case of cutis laxa with emphysema and a discussion of some syndromes characterized by elastolysis.原发性弹性组织离解。一例伴有肺气肿的皮肤松弛症病例报告及对某些以弹性组织离解为特征的综合征的讨论。

S Afr Med J. 1960 Aug 27;34:721-7.

Cutis laxa.皮肤松弛症

Arch Dermatol. 1961 Aug;84:266-72. doi: 10.1001/archderm.1961.01580140092012.

Excessively relaxed skin and the pituitary gland.过度松弛的皮肤与垂体。

Plast Reconstr Surg (1946). 1955 Jun;15(6):489-501. doi: 10.1097/00006534-195506000-00005.

Cutis laxa. A manifestation of generalized elastolysis.

Arch Dermatol. 1965 Oct;92(4):373-87. doi: 10.1001/archderm.92.4.373.

Cutis laxa associated with pulmonary artery stenosis.皮肤松弛症伴肺动脉狭窄。

J Pediatr. 1968 Apr;72(4):506-9. doi: 10.1016/s0022-3476(68)80341-5.

The physical properties of skin in cutis laxa.

Br J Dermatol. 1971 Apr;84(4):326-9. doi: 10.1111/j.1365-2133.1971.tb14227.x.

Acquired cutis laxa. Primary generalized elastolysis.获得性皮肤松弛症。原发性全身性弹性组织离解。

Arch Dermatol. 1971 Jun;103(6):661-9.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验