MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteop...
MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria
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English
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The advent of whole exome sequencing (WES) has revolutionised gene discovery and led to the identification of atypical phenotypes for well-known syndromes. Our case illustrates the phenotypic overlap between very different syndromes, harderoporphyria and infantile osteopetrosis, which was only resolved by WES.We report two siblings, both born with...
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MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria
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TN_cdi_crossref_primary_10_1136_jmedgenet_2015_103578_9
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_1136_jmedgenet_2015_103578_9
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2015-103578.9
