Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

Charlotte Pickwick; Bert Callewaert; Dijk F van; Juliette Harris; Emma Wakeling; Eleanor Hay; Mildrid Yeo; Anupam Chakrapani; Julia Baptista; Sandra Moore; Michael Yoong; Fiona Chatterjee; Neeti Ghali

doi:10.1097/mcd.0000000000000404

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

Charlotte Pickwick
, Bert Callewaert
, Dijk F van
, Juliette Harris
, Emma Wakeling
, Eleanor Hay
, Mildrid Yeo
, Anupam Chakrapani
, Julia Baptista
, Sandra Moore
, Michael Yoong
, Fiona Chatterjee
, Neeti Ghali^*

^*Corresponding author for this work

Peninsula Medical School

Cardiff University
Ghent University
London North West University Healthcare NHS Trust
Great Ormond Street Genetics
University College London
Royal Devon & Exeter NHS Foundation Trust
University of Exeter
Departments of Paediatric Neurology
Royal London Hospital

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	66-70
Number of pages	0
Journal	Clinical Dysmorphology
Volume	31
Issue number	2
Early online date	24 Dec 2021
DOIs	https://doi.org/10.1097/mcd.0000000000000404
Publication status	Published - Apr 2022

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10.1097/mcd.0000000000000404

Cite this

Pickwick, C., Callewaert, B., van, D. F., Harris, J., Wakeling, E., Hay, E., Yeo, M., Chakrapani, A., Baptista, J., Moore, S., Yoong, M., Chatterjee, F., & Ghali, N. (2022). Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings. Clinical Dysmorphology, 31(2), 66-70. https://doi.org/10.1097/mcd.0000000000000404

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title = "Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings",

author = "Charlotte Pickwick and Bert Callewaert and van, \{Dijk F\} and Juliette Harris and Emma Wakeling and Eleanor Hay and Mildrid Yeo and Anupam Chakrapani and Julia Baptista and Sandra Moore and Michael Yoong and Fiona Chatterjee and Neeti Ghali",

year = "2022",

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Pickwick, C, Callewaert, B, van, DF, Harris, J, Wakeling, E, Hay, E, Yeo, M, Chakrapani, A, Baptista, J, Moore, S, Yoong, M, Chatterjee, F & Ghali, N 2022, 'Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings', Clinical Dysmorphology, vol. 31, no. 2, pp. 66-70. https://doi.org/10.1097/mcd.0000000000000404

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AU - Pickwick, Charlotte

AU - Callewaert, Bert

AU - van, Dijk F

AU - Harris, Juliette

AU - Wakeling, Emma

AU - Hay, Eleanor

AU - Yeo, Mildrid

AU - Chakrapani, Anupam

AU - Baptista, Julia

AU - Moore, Sandra

AU - Yoong, Michael

AU - Chatterjee, Fiona

AU - Ghali, Neeti

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