Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?

Clin Dysmorphol. 2022 Apr 1;31(2):84-90. doi: 10.1097/MCD.0000000000000406.

Ataf H Sabir^{1

2

3}, Juhi Singhal⁴, Jessica Man², Nicola Cooper^{2

3}, Moira Cheung^{5

6}, Melita Irving^{1

6}

¹ Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London.
² Institute of Cancer and Genomic Sciences, University of Birmingham.
³ Department of Clinical Genetics, Lavender House, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham.
⁴ Department of Medicine, West Hertfordshire Hospitals NHS Trust, Hertfordshire.
⁵ Department of Paediatric Endocrinology, Evelina London Children's Hospital, London.
⁶ Guy's King's College and Saint Thomas' Hospitals' Medical and Dental School of King's College London: King's College London, School of Medical Education.

No abstract available

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