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Mauro Lecca

Explore the profile of Mauro Lecca including associated specialties, affiliations and a list of published articles. Areas
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Lecca M, Mauri L, Gana S, Del Longo A, Morelli F, Nicotra R, et al.
Clin Genet . 2024 Jun; 106(4):403-412. PMID: 38840272
The current genetic diagnostic workup of congenital cataract (CC) is mainly based on NGS panels, whereas exome sequencing (ES) has occasionally been employed. In this multicentre study, we investigated by...
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Errichiello E, Lecca M, Vantaggiato C, Motta Z, Zanotta N, Zucca C, et al.
Eur J Hum Genet . 2024 Apr; 32(8):920-927. PMID: 38605125
Copy number variants (CNVs) represent the genetic cause of about 15-20% of neurodevelopmental disorders (NDDs). We identified a ~67 kb de novo intragenic deletion on chromosome 2q22.3 in a female...
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Lecca M, Scribante A, Errichiello E
Pediatr Res . 2024 Jan; 95(6):1412-1414. PMID: 38245629
No abstract available.
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Lecca M, Bedeschi M, Izzi C, Dordoni C, Rinaldi B, Peluso F, et al.
Clin Genet . 2023 Apr; 104(2):230-237. PMID: 37038048
Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused by bi-allelic variants in one of the genes involved in the Notch...
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Lecca M, Pehlivan D, Suner D, Weiss K, Coste T, Zweier M, et al.
Am J Hum Genet . 2023 Mar; 110(4):681-690. PMID: 36996813
The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH)....
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Bonometti A, Lobascio G, Boveri E, Cesari S, Lecca M, Arossa A, et al.
Leuk Lymphoma . 2021 Mar; 62(9):2276-2279. PMID: 33783296
No abstract available.