Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

Abstract Contiguous ABCD1/ DXS1357E deletion syndrome (CADDS) is a rare deletion syndrome involving two contiguous genes on Xq28, ABCD1 and BCAP31 (formerly known as DXS1357E). Only nine individuals with this diagnosis have been reported in the medical literature to date. Intragenic loss‐of‐function...

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Bibliographic Details
Main Authors: Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Rebecca Halligan
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:JIMD Reports
Subjects:
ABCD1
BAP31
BCAP31
CADSS
cholestasis
lungs
Online Access:https://doi.org/10.1002/jmd2.12390

Internet

https://doi.org/10.1002/jmd2.12390

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