A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a patient with Noonan syndrome with multiple lentigines

Clin Exp Dermatol. 2024 Aug 22;49(9):1101-1103. doi: 10.1093/ced/llae121.

Authors

Olivia Kuo¹, Kevin Molloy¹, Ataf Sabir^{2

3}, Andrew Fleming⁴, Matthew Edwards⁴, Deborah Morris-Rosendahl⁴, Hiva Fassihi⁵, Philip Preston¹

Affiliations

¹ Department of Dermatology, Worcestershire Acute Hospitals NHS Trust, Worcester, UK.
² Department of Clinical Genetics, Birmingham Women's Hospital, Birmingham, UK.
³ Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
⁴ Department of Clinical Genetics and Genomics, Royal Brompton Hospital, London, UK.
⁵ Photodermatology Unit, St John's Institute of Dermatology, Guy's and St Thomas' NHS Trust, London, UK.

PMID: 38634779
DOI: 10.1093/ced/llae121

No abstract available

Publication types

Case Reports

MeSH terms

Aged
Humans
Lentigo / genetics
Lentigo / pathology
Male
Noonan Syndrome* / complications
Noonan Syndrome* / genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 11* / genetics

Substances

Protein Tyrosine Phosphatase, Non-Receptor Type 11
PTPN11 protein, human