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Developmental Regression with Early Feeding Difficulties and Characteristic Neuroimaging Features of H-ABC in an Infant from a TUBB4A Genetic Variant

Billie Charles-Britton,Yen Lee Leong,Damian Clark, Matthew Lynch,Sarah E. Donoghue

Journal of paediatrics and child health(2023)

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Journal of Paediatrics and Child HealthVolume 59, Issue 11 p. 1264-1266 Case Report Developmental regression with early feeding difficulties and characteristic neuroimaging features of H-ABC in an infant from a TUBB4A genetic variant Billie Charles-Britton, Billie Charles-Britton Metabolic Department, Women's and Children's Hospital, North Adelaide, South Australia, AustraliaSearch for more papers by this authorYen Lee Leong, Yen Lee Leong Department of Medical Imaging, Women's and Children's Hospital, North Adelaide, South Australia, AustraliaSearch for more papers by this authorDamian Clark, Damian Clark Neurology Department, Women's and Children's Hospital, North Adelaide, South Australia, AustraliaSearch for more papers by this authorMatthew Lynch, Matthew Lynch Department of Paediatrics, Lyell McEwin Hospital, Elizabeth Vale, South Australia, AustraliaSearch for more papers by this authorSarah E Donoghue, Corresponding Author Sarah E Donoghue [email protected] orcid.org/0000-0002-1189-5060 Metabolic Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia Correspondence: Dr Sarah E Donoghue, Metabolic Department, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia. Fax: (08) 81619326; email: [email protected]Search for more papers by this author Billie Charles-Britton, Billie Charles-Britton Metabolic Department, Women's and Children's Hospital, North Adelaide, South Australia, AustraliaSearch for more papers by this authorYen Lee Leong, Yen Lee Leong Department of Medical Imaging, Women's and Children's Hospital, North Adelaide, South Australia, AustraliaSearch for more papers by this authorDamian Clark, Damian Clark Neurology Department, Women's and Children's Hospital, North Adelaide, South Australia, AustraliaSearch for more papers by this authorMatthew Lynch, Matthew Lynch Department of Paediatrics, Lyell McEwin Hospital, Elizabeth Vale, South Australia, AustraliaSearch for more papers by this authorSarah E Donoghue, Corresponding Author Sarah E Donoghue [email protected] orcid.org/0000-0002-1189-5060 Metabolic Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia Correspondence: Dr Sarah E Donoghue, Metabolic Department, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia. Fax: (08) 81619326; email: [email protected]Search for more papers by this author First published: 12 September 2023 https://doi.org/10.1111/jpc.16492 Conflict of interest: None declared. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Hoff KJ, Neumann AJ, Moore JK. The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation. Front. Cell. 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