Article
Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.
American journal of medical genetics. Part A - 1 Apr 2025
De Falco Alessandro, Minale Elia Marco Paolo, Meossi Camilla, Pagano Stefano, Trovato Rosanna, Agolini Emanuele, Mucciolo Mafalda, Novelli Antonio, Bartolini Emanuele, Santorelli Filippo Maria, Piscopo Carmelo
Abstract excerpt
Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder associated with variants in the HUWE1 gene on chromosome Xp11. The condition is characterized by variable phenotypes, including global developmental delay, intellectual disability, and distinctive facial dysmorphisms, with inheritance patterns ranging from X-linked recessive to de novo mutations in females....
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