Literature DB >> 1488978

New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.

F Gurrieri1, V Sammito, A Bellussi, G Neri.   

Abstract

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Year:  1992        PMID： 1488978     DOI： 10.1002/ajmg.1320440310

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


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  2 in total

1.  Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Authors:  Maurizia Colangelo; Melissa Alfonsi; Chiara Palka; Eleonora Zio Zio; Silvana Di Renzo; Paolo Guanciali-Franchi; Giandomenico Palka
Journal:  J Genet       Date:  2018-03       Impact factor: 1.166

2.  Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Authors:  Hitesh Shah; Susanne Bens; Almuth Caliebe; John M Graham; Katta Mohan Girisha
Journal:  Am J Med Genet A       Date:  2012-09-17       Impact factor: 2.802
  2 in total

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