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Article

Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

American journal of medical genetics. Part A - 1 Oct 2017

Bashir Rani A, Dixit Abhijit, Goedhart Caitlin, Parboosingh Jillian S, Innes Allan M, Ferreira Patrick, Hasan Shabih U, Au Ping-Yee B

Abstract excerpt

We report two patients with sagittal craniosynostosis, hypoplastic male genitalia, agenesis of the corpus callosum, thyroid abnormalities, and dysmorphic features which include short palpebral fissures and retrognathia. The clinical presentation of both patients was initially thought to be suggestive of Lin-Gettig syndrome (LGS), a multiple malformation syndrome associated with craniosynostosis that was initially...

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PMID: 28696035
DOI: 10.1002/ajmg.a.38355

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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