Autosomal dominant intellectual disability type 21 in a neonate / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 306-309, 2021.
Article
em Zh
| WPRIM
| ID: wpr-879851
Biblioteca responsável:
WPRO
ABSTRACT
This is a case report on a 1-day-old male neonate admitted due to a weak cry for 1 day and recurrent circumoral cyanosis for 2 hours. He had unusual facial features at birth, with a single transverse palmar crease on both hands, flat feet, weak cry, feeding difficulties, congenital heart disease, and abnormality on cerebral MRI. Whole exome sequencing showed a
Texto completo:
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Índice:
WPRIM
Assunto principal:
Testes Genéticos
/
Éxons
/
Sequenciamento do Exoma
/
Deficiência Intelectual
/
Mutação
Limite:
Humans
/
Male
/
Newborn
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2021
Tipo de documento:
Article