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Article

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

Clinical genetics - 1 May 2024

Wimmer Moritz Claudius, Brennenstuhl Heiko, Hirsch Steffen, Dötsch Laura, Unser Samy, Caro Pilar, Schaaf Christian Patrick

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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PMID: 38221796
DOI: 10.1111/cge.14480

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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