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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
by Reijnders, Margot R. F

American journal of human genetics, 2016, Vol.98 (2), p.373-381

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Journal Title: American Journal Of Human Genetics

Subjects: Fat-Facets Gene (1); Interacts (1); Linked Intellectual Disability (1); more ...

X-Chromosome Inactivation (1)

Fam/usp9x (1)

Expression Analysis (1)

Deubiquitinating Enzyme (1)

Deubiquitylating Enzyme Selected

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Disorders (1)

Beta-Catenin (1)