Literature DB >> 14303408

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

R GIBSON.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; CHILD; CLUBFOOT; DYSCHONDROPLASIA; EPIPHYSES; GROWTH; HAND DEFORMITIES; HIP DISLOCATION, CONGENITAL; MENTAL RETARDATION; MICROCEPHALY; PHYSIOLOGY

Mesh：

Year:  1965        PMID： 14303408      PMCID： PMC1928195     

Source DB:  PubMed          Journal:  Can Med Assoc J        ISSN： 0008-4409            Impact factor:   8.262


× No keyword cloud information.
  2 in total

1.  A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

Authors:  D W SMITH; L LEMLI; J M OPITZ
Journal:  J Pediatr       Date:  1964-02       Impact factor: 4.406

2.  Congenital stippled epiphyses.

Authors:  G D FORD; M SCHNEIDER; J R BRANDON
Journal:  Pediatrics       Date:  1951-09       Impact factor: 7.124
  2 in total
  8 in total

1.  Smith-Lemli-Opitz syndrome: review and report of two affected siblings.

Authors:  V P Johnson
Journal:  Z Kinderheilkd       Date:  1975

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

Authors:  L Dallaire
Journal:  J Med Genet       Date:  1969-06       Impact factor: 6.318

3.  Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: a case report.

Authors:  B Say; S Balci; T Pirnar; R Israel; M Atasu
Journal:  Pediatr Radiol       Date:  1973-07

4.  Smith-Lemli-Opitz syndrome. Case report.

Authors:  R H Ruvalcaba; A Reichert; D W Smith
Journal:  Arch Dis Child       Date:  1968-10       Impact factor: 3.791

5.  Heterogeneity of Chondrodysplasia punctata.

Authors:  J W Spranger; J M Opitz; U Bidder
Journal:  Humangenetik       Date:  1971

6.  [The Smith-Lemli-Opitz-syndrome].

Authors:  H Schumacher
Journal:  Z Kinderheilkd       Date:  1969

7.  Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants.

Authors:  E F Gilbert; J M Opitz; J W Spranger; L O Langer; J J Wolfson; C Viseskul
Journal:  Eur J Pediatr       Date:  1976-09-01       Impact factor: 3.183

8.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.