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Novel variants of ABCC9 in Japanese children with CantĂș syndrome.
- Source :
-
Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2020 Mar; Vol. 62 (3), pp. 410-412. Date of Electronic Publication: 2020 Mar 21. - Publication Year :
- 2020
- Subjects :
- Cardiomegaly complications
Cardiomegaly diagnosis
Developmental Disabilities complications
Developmental Disabilities diagnosis
Female
Hernia, Inguinal complications
Hernia, Umbilical complications
Humans
Hypertrichosis complications
Hypertrichosis diagnosis
Infant
Japan
Mutation
Osteochondrodysplasias complications
Osteochondrodysplasias diagnosis
Exome Sequencing methods
Cardiomegaly genetics
Hypertrichosis genetics
Osteochondrodysplasias genetics
Sulfonylurea Receptors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1442-200X
- Volume :
- 62
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Pediatrics international : official journal of the Japan Pediatric Society
- Publication Type :
- Academic Journal
- Accession number :
- 32198910
- Full Text :
- https://doi.org/10.1111/ped.14098