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
in Chinese
| WPRIM
| ID: wpr-879851
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
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Genetic Testing
/
Exons
/
Exome Sequencing
/
Intellectual Disability
/
Mutation
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2021
Type:
Article
Similar
MEDLINE
...
LILACS
LIS