Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? - Suppr | 超能文献

Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome?

作者信息

Donnai D, Burn J, Hughes H

机构信息

Dept. of Medical Genetics, St. Mary's Hospital, Manchester, UK.

出版信息

Am J Med Genet. 1987 Nov;28(3):741-3. doi: 10.1002/ajmg.1320280323.

DOI:10.1002/ajmg.1320280323

Abstract

摘要

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1

Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome?

Am J Med Genet. 1987 Nov;28(3):741-3. doi: 10.1002/ajmg.1320280323.

2

The nosology of the Smith-Lemli-Opitz Syndrome.

Am J Med Genet. 1987 Nov;28(3):719-21. doi: 10.1002/ajmg.1320280319.

3

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome.

Am J Med Genet. 1987 Nov;28(3):723-31. doi: 10.1002/ajmg.1320280320.

4

Smith-Lemli-Opitz syndrome.

Am J Med Genet. 1987 Nov;28(3):735-9. doi: 10.1002/ajmg.1320280322.

5

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.史密斯-勒米-奥皮茨综合征II型：伴有男性假两性畸形和频繁早期致死率的多种先天性异常。

Am J Med Genet. 1987 Jan;26(1):45-57. doi: 10.1002/ajmg.1320260110.

6

Limb deficiency in an infant with Smith-Lemli-Opitz syndrome.

Am J Med Genet. 1989 Mar;32(3):380-3. doi: 10.1002/ajmg.1320320323.

7

Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome.膈肌缺损、颅面畸形、腭裂和肢体远端畸形。——一种新的致死性综合征。

J Genet Hum. 1980 Mar;28(1):57-60.

8

[Smith-Lemli-Opitz syndrome: evaluation of the correlations between individual traits as an approach to the study of heterogeneity].

Tsitol Genet. 1987 Jan-Feb;21(1):57-60.

9

The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect.

Am J Med Genet. 1987 Jan;26(1):59-64. doi: 10.1002/ajmg.1320260111.

10

Two cases of severe lethal Smith-Lemli-Opitz syndrome.

Am J Med Genet. 1987 Jan;26(1):65-7. doi: 10.1002/ajmg.1320260112.

引用本文的文献

1

The sonic hedgehog-patched-gli pathway in human development and disease.人类发育与疾病中的音猬因子-补丁蛋白-胶质瘤相关癌基因通路

Am J Hum Genet. 2000 Nov;67(5):1047-54. doi: 10.1016/S0002-9297(07)62934-6. Epub 2000 Sep 21.

2

Expression of human GLI in mice results in failure to thrive, early death, and patchy Hirschsprung-like gastrointestinal dilatation.人类GLI在小鼠中的表达导致生长发育不良、过早死亡以及散在的先天性巨结肠样胃肠道扩张。

Mol Med. 1997 Dec;3(12):826-35.

3

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.家族性帕利斯特-霍尔综合征中候选基因座的排除及胆固醇生物合成异常

J Med Genet. 1996 Nov;33(11):947-51. doi: 10.1136/jmg.33.11.947.

4

Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.

Pediatr Radiol. 1993;23(1):37-40. doi: 10.1007/BF02020219.

5

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.两名长期存活患者中帕利斯特-霍尔综合征的严格界定：手部放射学异常的重要性

J Med Genet. 1995 Aug;32(8):605-11. doi: 10.1136/jmg.32.8.605.

6

Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?史密斯-莱姆利-奥皮茨综合征。II：一种胎儿肾上腺疾病？

J Med Genet. 1990 Jul;27(7):465-6. doi: 10.1136/jmg.27.7.465.

7

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.前脑无裂畸形-多指（“假三体性13”）综合征：一种具有水脑致死综合征和史密斯-勒米-奥皮茨综合征特征的综合征。一项多中心合作研究。

J Med Genet. 1991 May;28(5):297-303. doi: 10.1136/jmg.28.5.297.