A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

• Main Authors: Giada Moresco (Author), Jole Costanza (Author), Carlo Santaniello (Author), Ornella Rondinone (Author), Federico Grilli (Author), Elisabetta Prada (Author), Simona Orcesi (Author), Ilaria Coro (Author), Anna Pichiecchio (Author), Paola Marchisio (Author), Monica Miozzo (Author), Laura Fontana (Author), Donatella Milani (Author)
• Format: Book
• Published: BMC, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background De novo pathogenic variants in the DDX3X gene are reported to account for 1-3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation,...