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Clinical outcome of individuals carrying 5T;TG12 in trans with CFTR variants with varying clinical consequences
  • +6
  • Antonella Tosco,
  • Vincenzo Carnovale,
  • Laura Claut,
  • Benedetta Fabrizzi,
  • Fabio Majo,
  • Carlo Castellani,
  • Angela Ornella Sepe,
  • Giuseppe Castaldo,
  • vito terlizzi
Antonella Tosco
Universita degli Studi di Napoli Federico II Dipartimento di Scienze Mediche Traslazionali

Corresponding Author:antonellatosco@gmail.com

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Vincenzo Carnovale
Universita degli Studi di Napoli Federico II Dipartimento di Scienze Mediche Traslazionali
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Laura Claut
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
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Benedetta Fabrizzi
Azienda Ospedaliero Universitaria Ospedali Riuniti di Ancona Umberto I G M Lancisi G Salesi
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Fabio Majo
Ospedale Pediatrico Bambino Gesu
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Carlo Castellani
Istituto Giannina Gaslini
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Angela Ornella Sepe
Universita degli Studi di Napoli Federico II Dipartimento di Scienze Mediche Traslazionali
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Giuseppe Castaldo
Universita degli Studi di Napoli Federico II Dipartimento di Medicina Molecolare e Biotecnologie Mediche
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vito terlizzi
Azienda Ospedaliero Universitaria Meyer
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Abstract

In conclusion, our data suggest that subjects with genotype 5T;TG12/VVCC likely have a very low risk of progressing to CF, as compared to those with F508del/5T;TG12. 4 This observation could lead to differentiate follow up in presence of at least one 5T;TG12. Knowing these data is crucial to offer a useful counseling for CRMS/CFSPID infants and for non‐CF adults with CBAVD alone. Anyway further data are needed to evaluate the outcomes after a longer follow up.

Peer review status:ACCEPTED

05 Jul 2022Submitted to Pediatric Pulmonology
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05 Jul 2022Submission Checks Completed
05 Jul 2022Assigned to Editor
10 Jul 2022Reviewer(s) Assigned
27 Jul 2022Review(s) Completed, Editorial Evaluation Pending
27 Jul 2022Editorial Decision: Revise Minor
24 Sep 20221st Revision Received
11 Oct 2022Submission Checks Completed
11 Oct 2022Assigned to Editor
11 Oct 2022Reviewer(s) Assigned
25 Oct 2022Review(s) Completed, Editorial Evaluation Pending
02 Nov 2022Editorial Decision: Revise Minor
17 Nov 20222nd Revision Received
17 Nov 2022Review(s) Completed, Editorial Evaluation Pending
17 Nov 2022Submission Checks Completed
17 Nov 2022Assigned to Editor
17 Nov 2022Reviewer(s) Assigned
05 Dec 2022Editorial Decision: Revise Minor
22 Dec 20223rd Revision Received
22 Dec 2022Submission Checks Completed
22 Dec 2022Assigned to Editor
22 Dec 2022Review(s) Completed, Editorial Evaluation Pending
22 Dec 2022Reviewer(s) Assigned
13 Jan 2023Editorial Decision: Accept