Usmani‐Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant

Usmani‐Riazuddin syndrome (USRISR, MIM# 619548; USRISD, MIM#619467) is a very rare genetic condition. recently associated with deleterious variants in AP1G1 (MIM* 603533). It is characterized by multisystemic involvement including intellectual disability, speech and developmental delay, behavioral a...

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Veröffentlicht in:	Clinical genetics 2024-07, Vol.106 (1), p.109-113
Hauptverfasser:	Gnazzo, Maria, Pascolini, Giulia, Parlapiano, Giovanni, Petrizzelli, Francesco, Perrino, Daniele, Porco, Luigina, Bartuli, Andrea, Novelli, Antonio, Baban, Anwar
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology AP1G1 Child, Preschool Chromatin Chromosome aberrations craniofacial dysmorphisms Developmental Disabilities - genetics Developmental Disabilities - pathology Female Hearing loss High-Throughput Nucleotide Sequencing Humans Intellectual disabilities intellectual disability Intellectual Disability - genetics Intellectual Disability - pathology Male Mutation - genetics Next-generation sequencing paroxysmal ventricular tachycardia Phenotype Phenotypes Seizures skin fragility Speech Usmani‐Riazuddin syndrome
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