Letizia Camerota
L'aquila, Italy
Last Updated: 09/26/2026
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Found 9 publications
Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
Journal: American journal of medical genetics. Part A
Published: January 06, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Journal: Human genetics
Published: November 30, 2020
Tremor is a major feature of 9p13 deletion syndrome.
Journal: American journal of medical genetics. Part A
Published: April 19, 2020
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Journal: Genes
Published: August 27, 2019
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
Journal: Acta dermato-venereologica
Published: August 14, 2019
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
Journal: The Journal of clinical investigation
Published: March 01, 2019
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
Journal: Human mutation
Published: July 12, 2018
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Journal: European journal of human genetics : EJHG
Published: October 29, 2017
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype.
Journal: Cytogenetic and genome research
Published: August 08, 2017
Showing 1-9 of 9
Last Updated: 09/26/2026