Clin Dysmorphol

. 2024 Apr 1;33(2):75-78.

 doi: 10.1097/MCD.0000000000000484. Epub 2024 Jan 5. https://pubmed.ncbi.nlm.nih.gov/38348958/

A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia

Yukiko Kuroda ¹, Yoko Saito ¹, Yumi Enomoto ², Takuya Naruto ², Kenji Kurosawa ¹

Affiliations expand

• PMID: 38348958
• DOI: 10.1097/MCD.0000000000000484

No abstract available