Article

Unique presentation of pycnodysostosis with multisuture craniosynostosis in a Sri Lankan child: a case report

2024-01-08

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Pycnodysostosis is a rare skeletal dysplasia with autosomal recessive inheritance caused by loss-of-function variants in the CTSK gene. The report represents the first documented case of pycnodysostosis in Sri Lanka, distinguished by its novel and atypical presentation. This expands the known phenotypic spectrum of pycnodysostosis, emphasizing the impact of spec...

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Literature Corpus work: d6f79d23-393e-5e4c-a0dd-f595a9138684
DOI: 10.21203/rs.3.rs-3827224/v1

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