A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.

Autor: Glaeser AB; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Diniz BL; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Santos AS; Underdegree Program in Biomedicine, UFCSPA, Porto Alegre, RS, Brazil., Guaraná BB; Medical Residency, Clinical Genetics, UFCSPA, Porto Alegre, RS, Brazil., Muniz VF; Medical Residency, Clinical Genetics, UFCSPA, Porto Alegre, RS, Brazil., Carlotto BS; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Everling EM; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Noguchi PY; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Garcia AR; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Miola J; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Riegel M; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil., Mergener R; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Gazzola Zen PR; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil; Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil., Machado Rosa RF; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil; Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil. Electronic address: rosa@ufcspa.edu.br.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2021 Nov; Vol. 64 (11), pp. 104319. Date of Electronic Publication: 2021 Aug 30.

Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?

Autor: de Mattos VF; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil., Graziadio C; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil., Machado Rosa RF; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil; Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, Rio Grande do Sul, Brazil., Lenhardt R; Radiology Service, CHSCPA, Porto Alegre, Rio Grande do Sul, Brazil., Alves RP; Radiology Service, CHSCPA, Porto Alegre, Rio Grande do Sul, Brazil., Trevisan P; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil., Paskulin GA; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil., Zen PR; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address: paulozen@ufcspa.edu.br.

Publikováno v: Pediatric neurology [Pediatr Neurol] 2014 Jun; Vol. 50 (6), pp. 612-5. Date of Electronic Publication: 2014 Jan 24.