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...

Podrobná bibliografie
Hlavní autoři:	Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita
Médium:	Článek
Jazyk:	English
Vydáno:	Nature Publishing Group 2024-12-01
Edice:	Human Genome Variation
On-line přístup:	https://doi.org/10.1038/s41439-024-00302-y

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