Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients-Reference-Cited by-同舟云学术

Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients

Published:2021-07-16 Issue:3 Volume:187 Page:364-372
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Quaio Caio Robledo D'Angioli Costa¹²³^ORCID,Chung Christine Hsiaoyun²,Perazzio Sandro Felix²⁴,Dutra Aurelio Pimenta²,Moreira Caroline Monaco²,Filho Gil Monteiro Novo²,Sacramento‐Bobotis Patricia Rossi²,Penna Michele Groenner²,Souza Rafaela Rogerio Floriano²,Cintra Vivian Pedigone²,Carnavalli Juliana Emilia Prior²,Silva Rafael Alves²⁵,Paixão Daniele²,Baratela Wagner Antonio da Rosa²,Olivati Caroline²,Spolador Gustavo Marquezani¹²,Santos Monize Nakamoto Provisor²,Pintao Maria Carolina²,Fornari Alexandre Ricardo dos Santos²,Burger Matheus²,Ramalho Rodrigo Fernandes²,Pereira Otavio Jose Eulalio²,Ferreira Elisa Napolitano²,Mitne‐Neto Miguel²,Kim Chong Ae¹

Affiliation:

1. Instituto da Crianca (Children's Hospital), Hospital das Clinicas HCFMUSP Faculdade de Medicina da Universidade de São Paulo São Paulo Brazil

2. Fleury Medicina e Saúde São Paulo Brazil

3. Laboratório Clínico Hospital Israelita Albert Einstein São Paulo Brazil

4. Division of Rheumatology Universidade Federal de Sao Paulo Sao Paulo Brazil

5. Laboratório de Hepatologia Molecular Aplicada (LHeMA), Escola Paulista de Medicina Universidade Federal de São Paulo Sao Paulo Brazil

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31932