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Article

Child-onset hepatic glycogenosis and steatosis in PTEN-related disorder.

European journal of medical genetics - 1 Jul 2026

Sihaklang Boonyanurak, Vaseenon Hathaipat, Lertudomphonwanit Chatmanee, Sornmayura Pattana, Getsuwan Songpon, Treepongkaruna Suporn, Wattanasirichaigoon Duangrurdee

Abstract excerpt

Bannayan-Riley-Ruvalcaba syndrome is a rare PTEN-related disorder characterized by macrocephaly, intellectual disability, autism, hamartomatous intestinal polyps, and pigmentation of the glans penis. We describe a novel pathogenic variant of PTEN, c.48del (p.Gln17LysfsTer7), along with the first description of hepatic glycogenosis and steatosis in a child with BRRS. We proposed that the mutation likely led to a...

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Identifiers

PMID: 42106060
DOI: 10.1016/j.ejmg.2026.105082

Genes

PTEN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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