Literature DB >> 6519116

The Coffin-Lowry syndrome. A study of two new index patients and their families.

M Haspeslagh, J P Fryns, L Beusen, F Van Dessel, L Vinken, E Moens, H Van den Berghe.   

Abstract

Two adult, mentally retarded males with the typical features of the Coffin-Lowry syndrome are reported. Further family investigation led to the same diagnosis in a 2.5-year-old male cousin, and to the identification of five female carriers, with variable clinical expression of this X-linked inherited mental retardation syndrome.

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Year:  1984        PMID： 6519116     DOI： 10.1007/bf00445790

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  13 in total

1.  Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

Authors:  G R Sutherland
Journal:  Science       Date:  1977-07-15       Impact factor: 47.728

2.  Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Authors:  A K Poznanski; S M Garn; J M Nagy; J C Gall
Journal:  Radiology       Date:  1972-07       Impact factor: 11.105

3.  X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution.

Authors:  G Turner; B Engisch; D G Lindsay; B Turner
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

4.  Mental retardation, abnormal fingers, and skeletal anomalies: Coffin's syndrome.

Authors:  P G Procopis; B Turner
Journal:  Am J Dis Child       Date:  1972-08

5.  [The coffin, Siris, Wegienka syndrome].

Authors:  B Martinelli; E Campailla
Journal:  G Psichiatr Neuropatol       Date:  1969

6.  A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.

Authors:  B Lowry; J R Miller; F C Fraser
Journal:  Am J Dis Child       Date:  1971-06

7.  The Coffin syndrome.

Authors:  J P Fryns; L Vinken; H Van den Berghe
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

8.  The Coffin-Lowry syndrome. Experience from four centres.

Authors:  A G Hunter; M W Partington; J A Evans
Journal:  Clin Genet       Date:  1982-05       Impact factor: 4.438

9.  Coffin-Lowry syndrome in an Afro-American family.

Authors:  B G Kousseff
Journal:  Am J Med Genet       Date:  1982-03

10.  Brief clinical report: early recognition of the Coffin-Lowry syndrome.

Authors:  W G Wilson; T E Kelly
Journal:  Am J Med Genet       Date:  1981
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  4 in total

Review 1.  The Coffin-Lowry syndrome.

Authors:  I D Young
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

2.  Callosal dysgenesis in a patient with Coffin-Lowry syndrome.

Authors:  A Ozden; E Dirik; A Emel; N Sevinc
Journal:  Indian J Pediatr       Date:  1994 Jan-Feb       Impact factor: 1.967

3.  Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

Authors:  V Biancalana; M L Briard; A David; S Gilgenkrantz; J Kaplan; M Mathieu; C Piussan; J Poncin; A Schinzel; C Oudet
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

Review 4.  Coffin-Lowry syndrome: clinical and molecular features.

Authors:  A Hanauer; I D Young
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318
  4 in total

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