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...
Автори: | Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita |
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Формат: | Стаття |
Мова: | English |
Опубліковано: |
Nature Publishing Group
2024-12-01
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Серія: | Human Genome Variation |
Онлайн доступ: | https://doi.org/10.1038/s41439-024-00302-y |
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