Literature DB >> 6859094

Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome.

R B Lowry.   

Abstract

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Year:  1983        PMID： 6859094     DOI： 10.1002/ajmg.1320140305

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  9 in total

1.  Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

Authors:  M G Harbord; M Baraitser; J Wilson
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

2.  Behaviour disorder in monosomy 10qter.

Authors:  L Mehta; D P Duckett; I D Young
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

3.  The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity.

Authors:  E D Cherstvoy; G I Lazjuk; T I Ostrovskaya; I A Shved; G I Kravtzova; I W Lurie; A I Gerasimovich
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1984

4.  High incidence of Meckel's syndrome in Gujarati Indians.

Authors:  I D Young; A B Rickett; M Clarke
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

Review 5.  Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.

Authors:  C A Johnson; P Gissen; C Sergi
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

6.  The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

Authors:  D Donnai; I D Young; W G Owen; S A Clark; P F Miller; W F Knox
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

Review 7.  Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

Authors:  M L Merrer; M L Briard; S Girard; N Mulliez; C Moraine; M C Imbert
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

8.  An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.

Authors:  P R Scarbrough; K Huddleston; S C Finley
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

9.  Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.

Authors:  Murat Cakir; Ilke Mungan; Melike Makuloglu; Aysenur Okten
Journal:  Indian J Pediatr       Date:  2006-08       Impact factor: 5.319
  9 in total

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