We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9.
- Authors
Yokoi, Takayuki; Enomoto, Yumi; Tsurusaki, Yoshinori; Naruto, Takuya; Kurosawa, Kenji
- Abstract
The article presents a case study of a 43-month-old Japanese who was clinically diagnosed with Cantú syndrome (CS) with a variant of the nucleotide-binding domain I (NBD1) in ABCC9. He was born to non-consanguineous healthy parents where his mother underwent five amnioreductions for polyhydramnios during the prenatal stage. It mentions that his motor development was delayed by almost 23 months.
- Subjects
JAPAN; CHILD development deviations; RARE diseases; SEQUENCE analysis
- Publication
Pediatrics International, 2020, Vol 62, Issue 10, p1206
- ISSN
1328-8067
- Publication type
Case Study
- DOI
10.1111/ped.14273