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Diagnosis of thanatophoric dysplasia using clinical exome screening

Holub, Michal ; Sekowská, Martina ; Smetanová, Dagmar ; Koudová, Monika ; Sobolová, Kateřina ; Šinská, Alexandra ; Heřman, Hynek

Ceská gynekologie, 2023-01, Vol.88 (5), p.376-379 [Periódico revisado por pares]

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Título:
Diagnosis of thanatophoric dysplasia using clinical exome screening
Autor: Holub, Michal ; Sekowská, Martina ; Smetanová, Dagmar ; Koudová, Monika ; Sobolová, Kateřina ; Šinská, Alexandra ; Heřman, Hynek
É parte de: Ceská gynekologie, 2023-01, Vol.88 (5), p.376-379
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. The major role in diagnostics plays a high-quality ultrasound examination in the 2nd trimester and the latest methods of genetic testing, including clinical exome testing. Knowing the correct diagnosis is crucial for the future of the fetus and the couple. Key words: skletal dysplasia – whole exome – thanaphoric dysplasia
Idioma: Inglês

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