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First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.

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Bibliographic Details
Title: First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.
Authors: Thamissarakul, Supitcha1 (AUTHOR), Boonswang, Teeraphorn2 (AUTHOR), Lertsakulbunlue, Sethapong3 (AUTHOR), Khumsui, Siriluk4 (AUTHOR), Boonyawat, Boonchai4 (AUTHOR) b.boonyawat@pcm.ac.th, Sharma, Richa (AUTHOR) richsharma@wiley.com
Source: Case Reports in Genetics. 2/9/2026, Vol. 2026, p1-7. 7p.
Database: Academic Search Ultimate
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ISSN:20906544
DOI:10.1155/crig/9550632