Glutathione synthetase deficiency: a novel mutation with femur agenesis.

Glutathione synthetase deficiency: a novel mutation with femur agenesis. Fetal Pediatr Pathol. 2019 Jun 14;:1-7 Authors: Guney Varal I, Dogan P, Gorukmez O, Dorum S, Akdag A Abstract Introduction: Glutathione synthetase (GSS) deficiency is an autosomal recessive disorder (frequency  A, p.Arg267Gln in the GSS gene of this patient. Femur agenesis had not previously been associated with GSS. PMID: 31198081 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

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Source: Comparative immunology, microbiology and infectious diseases. - Category: Allergy & Immunology Authors: Tags: Comp Immunol Microbiol Infect Dis Source Type: research
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Source: Clinical Science - Category: Biomedical Science Authors: Tags: PublishAheadOfPrint Source Type: research
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