Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing

Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing

Abstract We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in D...

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Détails bibliographiques
Auteurs principaux: Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita
Format: Article
Langue:English
Publié: Nature Publishing Group 2024-12-01
Collection:Human Genome Variation
Accès en ligne:https://doi.org/10.1038/s41439-024-00302-y

Internet

https://doi.org/10.1038/s41439-024-00302-y

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