Literature DB >> 5132310

Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome.

R A Rüdiger, W Schmidt, D A Loose, E Passarge.   

Abstract

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Year:  1971        PMID： 5132310     DOI： 10.1016/s0022-3476(71)80193-2

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


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  2 in total

Review 1.  The Coffin-Siris syndrome. A report of four cases and review of the literature.

Authors:  J Lucaya; J A Garcia-Conesa; J M Bosch-Banyeras; G Pons-Peradejordi
Journal:  Pediatr Radiol       Date:  1981

2.  Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

Authors:  L I al-Gazali; D Donnai; R F Mueller
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318
  2 in total

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