Literature DB >> 19474705

Two siblings with microcephaly, growth retardation, cataract, hearing loss, and unusual appearance.

Lars Kjaersgaard Hansen1, Anette Bygum, Lilian Bomme Ousager.   

Abstract

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Year:  2009        PMID： 19474705     DOI： 10.1097/MCD.0b013e32832c0114

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  1 in total

1.  Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

Authors:  Anne B Krøigård; Andrew P Jackson; Louise S Bicknell; Emma Baple; Klaus Brusgaard; Lars K Hansen; Lilian B Ousager
Journal:  Clin Dysmorphol       Date:  2016-04       Impact factor: 0.816
  1 in total

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