Add to ORKGWhole-exome sequencing in a female fetus detected a USP9X variant. This X-linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X. Identifying this variant impacted management of the subsequent pregnancy
International audiencePurpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterog...
With a wealth of disease-associated DNA variants being recently reported, the challenges of providin...
Background. More than 100 X-linked intellectual disability (X-LID) genes have been identified to be ...
USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X lea...
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual d...
We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphi...
We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphi...
Objective: Isolated agenesis of the corpus callosum on fetal ultrasound has a varied prognosis. Micr...
Introduction: The X-chromosomal USP9X gene encodes a deubiquitylating enzyme involved in protein tur...
With a wealth of disease-associated DNA variants being recently reported, the challenges of providin...
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual d...
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual d...
Introduction: USP9X gene is located on the X-chromosome and encodes for an enzyme that regulates imp...
International audiencePurpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterog...
With a wealth of disease-associated DNA variants being recently reported, the challenges of providin...
Background. More than 100 X-linked intellectual disability (X-LID) genes have been identified to be ...
USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X lea...
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual d...
We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphi...
We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphi...
Objective: Isolated agenesis of the corpus callosum on fetal ultrasound has a varied prognosis. Micr...
Introduction: The X-chromosomal USP9X gene encodes a deubiquitylating enzyme involved in protein tur...
With a wealth of disease-associated DNA variants being recently reported, the challenges of providin...
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual d...
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual d...
Introduction: USP9X gene is located on the X-chromosome and encodes for an enzyme that regulates imp...
International audiencePurpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterog...
With a wealth of disease-associated DNA variants being recently reported, the challenges of providin...
Background. More than 100 X-linked intellectual disability (X-LID) genes have been identified to be ...