Lucrezia Perri
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View article: Solid Tumors in RASopathies: Insights from a Large Monocentric Cohort and Systematic Review of the Literature
Solid Tumors in RASopathies: Insights from a Large Monocentric Cohort and Systematic Review of the Literature Open
Background. The RAS-MAPK signaling cascade mediates cellular responses to external stimuli, regulating key processes involved in tumorigenesis, including growth, differentiation, and survival. RASopathies are a group of neurodevelopmental …
View article: Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen
Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen Open
Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a…
View article: A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment Open
View article: Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature Open
Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial an…
View article: Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association Open
PIK3CA-related disorders encompass many rare and ultra-rare conditions caused by somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is essential for cell cycle control. PIK3CA-related disorders include P…
View article: The “FEEDS (FEeding Eating Deglutition Skills)” over Time Study in Cardiofaciocutaneous Syndrome
The “FEEDS (FEeding Eating Deglutition Skills)” over Time Study in Cardiofaciocutaneous Syndrome Open
Feeding, eating and deglutition difficulties are key concerns in patients with cardiofaciocutaneous syndrome (CFCS). This study intends to quantify the development of feeding skills from birth to adulthood in patients with CFCS. Twenty-sev…
View article: Further case of enlarged spinal nerve roots in <i>KRAS</i> ‐related Noonan syndrome
Further case of enlarged spinal nerve roots in <i>KRAS</i> ‐related Noonan syndrome Open
Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway. Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged sp…