伴有泌尿生殖系统和骨骼异常的发育迟缓综合征（史密斯-勒米-奥皮茨综合征）：临床特征及遗传方式 - Suppr

Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

作者信息

Dallaire L

出版信息

J Med Genet. 1969 Jun;6(2):113-20. doi: 10.1136/jmg.6.2.113.

DOI:10.1136/jmg.6.2.113

PMID:4389828

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468850/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e06/1468850/b421471b81a5/jmedgene00373-0004-a.jpg

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A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA.

Can Med Assoc J. 1965 Mar 13;92(11):574-5.

A FAMILIAL SYNDROME OF FACIAL AND SKELETAL ANOMALIES ASSOCIATED WITH GENITAL ABNORMALITY IN THE MALE AND NORAML GENITALS IN THE FEMALE: ANOTHER CAUSE OF MALE PSEUDOHERMAPHRODITISM.

J Pediatr. 1965 Jun;66:1049-54. doi: 10.1016/s0022-3476(65)80091-9.

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

J Pediatr. 1964 Feb;64:210-7. doi: 10.1016/s0022-3476(64)80264-x.

Chromosome preparations of leukocytes cultured from human peripheral blood.

Exp Cell Res. 1960 Sep;20:613-6. doi: 10.1016/0014-4827(60)90138-5.

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A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings.

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Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings.

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Dermatoglyphics in pediatric practice.

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Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

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