Literature DB >> 4217148

[Pseudodiastrophic dwarfism. Study of 2 newborn sisters].

G R Burgio, C Belloni, G Beluffi.   

Abstract

Mesh:

Year:  1974        PMID: 4217148

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


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  2 in total

1.  Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Authors:  Alicia B Byrne; Shuji Mizumoto; Peer Arts; Patrick Yap; Jinghua Feng; Andreas W Schreiber; Milena Babic; Sarah L King-Smith; Christopher P Barnett; Lynette Moore; Kazuyuki Sugahara; Hatice Mutlu-Albayrak; Gen Nishimura; Jan E Liebelt; Shuhei Yamada; Ravi Savarirayan; Hamish S Scott
Journal:  J Med Genet       Date:  2020-01-27       Impact factor: 6.318

2.  Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

Authors:  Chaya Murali; James T Lu; Mahim Jain; David S Liu; Ralph Lachman; Richard A Gibbs; Brendan H Lee; Daniel Cohn; Philippe M Campeau
Journal:  Mol Genet Metab Rep       Date:  2014
  2 in total

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