MAST1-related mega-corpus-callosum syndrome with central hypogonadism

CONCLUSION: This is the first patient with MAST1 gene mutation described with central hypogonadism, which may be associated with the phenotype of MCCCHCM syndrome.PMID:37758169 | DOI:10.1016/j.ejmg.2023.104853

Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Natacha Sloboda Emeline Renard Laetitia Lambert C éline Bonnet Bruno Leheup Calina Todosi Emmanuelle Schmitt Fran çois Feillet Eva Feigerlova Am élie Piton Pierre Journeau Marc Klein Louis Maillard Jamel Chelly Mathilde Renaud Source Type: research