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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita
Μορφή:	Άρθρο
Γλώσσα:	English
Έκδοση:	Nature Publishing Group 2024-12-01
Σειρά:	Human Genome Variation
Διαθέσιμο Online:	https://doi.org/10.1038/s41439-024-00302-y

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Έκδοση: (2024-10-01)

Uterine anomalies, unclassified
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Έκδοση: (2016-03-01)

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ανά: Cameron Young, κ.ά.
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ανά: René Gómez-Lainsa, κ.ά.
Έκδοση: (2025-01-01)

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ανά: Asha Mahadevappa, κ.ά.
Έκδοση: (2012-01-01)

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ανά: Semih Koçyiğit, κ.ά.
Έκδοση: (2017-06-01)

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ανά: Omar Viswanath, κ.ά.
Έκδοση: (2018-01-01)

Comorbidities in unclassifiable interstitial lung disease
ανά: Thomas Skovhus Prior, κ.ά.
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Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly
ανά: Jianlong Zhuang, κ.ά.
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ανά: Qianying Zhao, κ.ά.
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Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus
ανά: Chih-Ping Chen, κ.ά.
Έκδοση: (2018-02-01)

Polyostotic fibrous dysplasia of the ribs: An unusual cause of chest pain and dyspnea
ανά: Sevket Ozkaya, κ.ά.
Έκδοση: (2009-08-01)

Evaluation of thoracic paravertebral block for pain relief in rib fractures
ανά: Tarun Yadav, κ.ά.
Έκδοση: (2023-12-01)

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ανά: Aidan P. Wiley, κ.ά.
Έκδοση: (2022-09-01)

The rib cage stabilizes the human thoracic spine: An in vitro study using stepwise reduction of rib cage structures.
ανά: Christian Liebsch, κ.ά.
Έκδοση: (2017-01-01)

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ανά: Carine, M, κ.ά.
Έκδοση: (2002)

Recognition and management of inflammatory bowel disease unclassified
ανά: Tian-Yu ZHANG, κ.ά.
Έκδοση: (2022-10-01)

Thixotropy of unclassified pastes in the process of stirring and shearing
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Έκδοση: (2016-10-01)

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ανά: Cynthia Maria Chibani, κ.ά.
Έκδοση: (2019-02-01)

An experimental study on the flocculating settling of unclassified tailings.
ανά: Jiwei Bian, κ.ά.
Έκδοση: (2018-01-01)

A case of unclassified B-cell lymphosarcoma
ανά: V I Vorob'ev, κ.ά.
Έκδοση: (2008-07-01)

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ανά: G. I. Nechaeva, κ.ά.
Έκδοση: (2018-03-01)

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Έκδοση: (2024-12-01)

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ανά: Christian Liebsch, κ.ά.
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First rib removal and decompression of the thoracic outlet as an indication to facilitate hemodialysis
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Έκδοση: (2018-01-01)

Unclassified Diffuse Ductal Cholangiocarcinoma; Report of a Case
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Έκδοση: (2014-01-01)

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Stratification of patients with unclassified pain in the FabryScan database
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Role of adiponectin in patients with inflammatory bowel disease unclassified
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