Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.

Francisco Javier Cotrina-Vinagre; Emma Soengas-Gonda; Juan F Quesada-Espinosa; Agustín Cárdenas Del Carre; Olivier Patat; Guillaume Banneau; Elena Martín-Hernández; Francisco Martínez-Azorín

doi:10.1007/s10072-026-09507-1

SCHEDA SCIENTIFICA2026Caso clinico

Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.

Francisco Javier Cotrina-Vinagre, Emma Soengas-Gonda, Juan F Quesada-Espinosa, Agustín Cárdenas Del Carre, Olivier Patat, Guillaume Banneau, Elena Martín-Hernández, Francisco Martínez-Azorín

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026

Psicologia clinica Psicologia dello sviluppo

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Parole chiave

HumansFemaleX Chromosome InactivationHeterozygoteIntellectual DisabilityLeukoencephalopathiesFAM50AArmfield type diseaseHumara testMRXSASkewed X-chromosome inactivationWES

Come citare questo studio

Francisco Javier Cotrina-Vinagre, Emma Soengas-Gonda, Juan F Quesada-Espinosa, Agustín Cárdenas Del Carre, Olivier Patat, Guillaume Banneau, Elena Martín-Hernández, Francisco Martínez-Azorín. (2026). Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. DOI: 10.1007/s10072-026-09507-1

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