Literature DB >> 1255317

A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities.

M A Keller, K L Jones, W L Nyhan, U Francke, B Dixson.   

Abstract

Entities:  

Mesh：

Year:  1976        PMID： 1255317     DOI： 10.1016/s0022-3476(76)80012-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  6 in total

Review 1.  MED12 related disorders.

Authors:  John M Graham; Charles E Schwartz
Journal:  Am J Med Genet A       Date:  2013-10-10       Impact factor: 2.802

2.  FG syndrome.

Authors:  E Thompson; M Baraitser
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

3.  Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome.

Authors:  J Burn; N Martin
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

4.  Anorectal malformation: familial aspects and associated anomalies.

Authors:  G R Boocock; D Donnai
Journal:  Arch Dis Child       Date:  1987-06       Impact factor: 3.791

5.  Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.

Authors:  John M Graham; Jeannie Visootsak; Elisabeth Dykens; Lillie Huddleston; Robin D Clark; Kenneth L Jones; John B Moeschler; John M Opitz; Jackie Morford; Richard Simensen; R Curtis Rogers; Charles E Schwartz; Michael J Friez; Roger E Stevenson
Journal:  Am J Med Genet A       Date:  2008-12-01       Impact factor: 2.802

6.  FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.

Authors:  Robin Dawn Clark; John M Graham; Michael J Friez; Joe J Hoo; Kenneth Lyons Jones; Carole McKeown; John B Moeschler; F Lucy Raymond; R Curtis Rogers; Charles E Schwartz; Agatino Battaglia; Michael J Lyons; Roger E Stevenson
Journal:  Genet Med       Date:  2009-11       Impact factor: 8.822
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.