A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant

Clin Dysmorphol. 2021 Apr 1;30(2):115-119. doi: 10.1097/MCD.0000000000000362.

Ataf H Sabir^{1

2}, Ananya Singh², George Elley³, Evangeline Wassemer⁴, Katharine Foster⁵, Melissa Sloman⁶, Derek Lim^{1

2}

¹ Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust & Birmingham Health Partners.
² Department of Medicine, University of Birmingham, Birmingham.
³ Foundation of Doctor, Department of Medicine, Ashford and St Peter's NHS Trust, Ashford.
⁴ Department of Paediatric Neurology.
⁵ Department of Paediatric Radiology, Birmingham Women's and Children's Hospital NHS Trust & Birmingham Health Partners, Birmingham.
⁶ Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.

No abstract available

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