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...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser:	Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita
Format:	Artikel
Sprache:	English
Veröffentlicht:	Nature Publishing Group 2024-12-01
Schriftenreihe:	Human Genome Variation
Online Zugang:	https://doi.org/10.1038/s41439-024-00302-y

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