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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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Published in:Case Reports in Genetics
Format: Online Article RSS Article
Published: 2026
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container_title Case Reports in Genetics
description
discipline_display Genetics
discipline_facet Genetics
format Online Article
RSS Article
genre Journal Article
id rss_article:70855
institution FRELIP
journal_source_facet Case Reports in Genetics
publishDate 2026
publishDateSort 2026
record_format rss_article
spellingShingle First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum
Genetics
General
Genetics
sub_discipline_display General
sub_discipline_facet General
subject_display Genetics
General
Genetics
Genetics
General
Genetics
subject_facet Genetics
General
Genetics
title First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum
title_auth First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum
title_full First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum
title_fullStr First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum
title_full_unstemmed First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum
title_short First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum
title_sort first thai case of lethal desbuquois dysplasia type i caused by novel compound heterozygous cant1 mutations: expanding the molecular spectrum
topic Genetics
General
Genetics
url https://www.hindawi.com/journals/crig/2026/9550632/