Literature DB >> 536739

[Pseudodiastrophic dwarfism: a case report].

N Canki, B Sernec-Logar, M Prodan, L Pintar.   

Abstract

On the occasion of one new possible observation of the pseudodiastrophic dworfism observed in a femal newborn, first child of young, non-consanguineous parents, authors discuss the differential diagnosis as well as the problem of genetic counselling in the present case since the child's father is a technician in radiology and exposed to X-rays during 7 years.

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Year:  1979        PMID: 536739

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  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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