Article

Hao-Fountain Syndrome: 32 novel patients reveal new insights into the clinical spectrum

2023-11-15

Abstract excerpt

Hao-Fountain syndrome (HAFOUS, OMIM: #616863) is a neurodevelopmental disorder caused by pathogenic variants in the gene USP7 coding for USP7, a protein involved in several crucial cellular homeostatic mechanisms and the recently described MUST complex. The phenotype of HAFOUS is insufficiently understood, yet there is a great need to better understand the spectrum of disease, genotype-phenotype correlations, and...

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Literature Corpus work: a5907d95-1951-5372-8d19-032268013b18
DOI: 10.1101/2023.11.14.23298551

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